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Sandy:

What wonderful news!  I'm so happy that they finally came to the right
decision!

When I was approved they paid me 1 year of back pay and I hadn't been
working for 18 months.  That big check came in handy to catch us up with all
of the bills we were behind.  I hope they pay you all the way back to 2003,
but a check going back to 2005 would be a nice sized check too!

Jenn


From: "Sandy Chasse" <slchasse@...>
Reply-To: CMT-Support@yahoogroups.com
To: <CMT-Support@yahoogroups.com>
Subject: [CMT-Support] Break out our party shoes!!!
Date: Mon, 30 Apr 2007 17:43:46 -0400

Well after 2 VERY long years ...after being denied 2 times and finally
getting a hearing before and ALJ and having my hearing date CANCELED 24 hrs
before I was supposed to go to court..I got a letter in the mail from SOC
SEC and I recieved A FULLY FAVORABLE Decision for SSDI !!!!!!!!!!!!!! I
almost cant believe it !! But I am looking at it so it must be TRUE ... I
had applied back in Sept 2005 and they decided I was disabled since June
2003. Not sure what that means I know that was the last month I worked..I
thought they only went back as far as when you applied..but who am I to say?
Even after going thru all this I still dont know a darn thing about how this
all works.. All  I know is I got a favorable decision..I also want to Thank
all everyone here for supporting me thru all of this and ALL the info I and
advice I recieve from this group is what kept  and still keeps me going and
helped me trudge thru all this complicated stuff.. You all cant imagine how
much all the files and info and personal advice helped me.  I am not sure
what happens now ..but I guess I sit back and wait till Soc sec tells me how
much I will recieve each month..LOL probably another 6 months they will send
me THAT letter..It has been so hard having to come home not feeling well and
then add that to being a finacial burden upon my husband who suffered a
stroke 8 weeks after I was finally diagnosed..Even though he wasnt feeling
well he went right back to work within 4 days after and has to work so hard
and yet without my income we are on the verge of finacial ruin..I hope when
I start recieving whatever soc sec says I am entitiled to will help even
just a little.. I am so happy to have found this group and the support you
all give..Hugs Sandy

[Non-text portions of this message have been removed]

_________________________________________________________________
Don’t quit your job – Take Classes Online and Earn your Degree in 1 year.
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Ooh Sandy...congrats!! and what a relief huh?  Gee, I would think
since they claim you were disabled since June 03, normally you would
have started collecting 5 (or 6?) months after that.  I would think
they'll pay you back to that date.  Sure hopin' for ya on that.  Hope
you sleep good now :-)

Melody

Congratulations Sandy! Hope the rest is smoother sailing and you
don't have to wait too long for the first check!

Julie

--- In CMT-Support@yahoogroups.com, "Sandy Chasse" <slchasse@...>
wrote:
>
> Well after 2 VERY long years ...after being denied 2 times and
finally getting a hearing before and ALJ and having my hearing date
CANCELED 24 hrs before I was supposed to go to court..I got a letter
in the mail from SOC SEC and I recieved A FULLY FAVORABLE Decision
for SSDI !!!!!!!!!!!!!! I almost cant believe it !! But I am looking
at it so it must be TRUE ... I had applied back in Sept 2005 and
they decided I was disabled since June 2003. Not sure what that
means I know that was the last month I worked..I thought they only
went back as far as when you applied..but who am I to say? Even
after going thru all this I still dont know a darn thing about how
this all works.. All  I know is I got a favorable decision..I also
want to Thank all everyone here for supporting me thru all of this
and ALL the info I and advice I recieve from this group is what
kept  and still keeps me going and helped me trudge thru all this
complicated stuff.. You all cant imagine how much all the files and
info and personal advice helped me.  I am not sure what happens
now ..but I guess I sit back and wait till Soc sec tells me how much
I will recieve each month..LOL probably another 6 months they will
send me THAT letter..It has been so hard having to come home not
feeling well and then add that to being a finacial burden upon my
husband who suffered a stroke 8 weeks after I was finally
diagnosed..Even though he wasnt feeling well he went right back to
work within 4 days after and has to work so hard and yet without my
income we are on the verge of finacial ruin..I hope when I start
recieving whatever soc sec says I am entitiled to will help even
just a little.. I am so happy to have found this group and the
support you all give..Hugs Sandy
>
> [Non-text portions of this message have been removed]
>

Erin...hoping this is what you are making referance to!

located at
http://genetests.org home page under

Medical Genetics
Info/Univ. of Washington, Seattle, Washington

Database/CMT Genetic Resources
Educational Material
Illustrated Glossary






---
Glossary
affected: An individual who manifests symptoms of a particular
condition






allele: One version of a gene at a given location (locus) along a
chromosome



Related Terms: allele frequency; allelic variant of unknown
significance; compound heterozygote; heterozygote; homozygote; locus;
mutation; polymorphism; wild-type allele




allele frequency: (synonym: gene frequency) The proportion of
individuals in a population who have inherited a specific gene
mutation or variant






allele-specific oligonucleotide testing: (synonyms: ASO, ASO testing)
The detection of a specific mutation using a synthetic segment of DNA
approximately 20 base pairs in length (an oligonucleotide) that binds
to and hence identifies the complementary sequence in a DNA sample






allelic heterogeneity: (synonym: molecular heterogeneity) Different
mutations in the same gene at the same chromosomal locus that cause a
single phenotype



Related Terms: allele; locus heterogeneity; mutation




allelic variant of unknown significance: An alteration in the normal
sequence of a gene, the significance of which is unclear until
further study of the genotype and corresponding phenotype in a
sufficiently large population; complete gene sequencing often
identifies numerous (sometimes hundreds) allelic variants for a given
gene



Related Terms: allele; benign variant; disease-causing mutation;
mutation; polymorphism; sequence alteration




alternate paternity: (synonyms: false paternity, nonpaternity) The
situation in which the alleged father of a particular individual is
not the biological father






Analysis of the entire coding region: Mutation scanning: (synonyms:
mutation scanning, mutation screening, scanning) A 2-step process by
which the entire coding region of a gene is first analyzed via one of
a variety of methods (such as CSGE, DGGE, SSCP, DHPLC or TGCE) to
identify sequence alterations. These methods do not identify the
specific nucleotide change(s) and must be followed by further
analysis (usually sequencing) to identify the specific sequence
alteration



Related Terms: Analysis of the entire coding region: Sequence
analysis; CSGE; DGGE; DNA-based testing; PCR; SSCP; Targeted mutation
analysis; molecular genetic testing




Analysis of the entire coding region: Sequence analysis: (synonyms:
gene sequencing, sequence analysis, sequencing) The process by which
the nucleotide sequence is determined for the entire coding region of
a gene



Related Terms: Analysis of the entire coding region: Mutation
scanning; DNA-based testing; PCR; Targeted mutation analysis; direct
DNA analysis; molecular genetic testing




analyte: A complex biological component of an enzymatic reaction; a
substance that is typically measured in a Biochemical/Metabolic
specialty laboratory that is absent, reduced in quantity, or
increased in quantity, as a result of an abnormality in a metabolic
pathway






aneuploidy: The occurrence of one or more extra or missing
chromosomes leading to an unbalanced chromosome complement, or, any
chromosome number that is not an exact multiple of the haploid number






anticipation: The tendency in certain genetic disorders for
individuals in successive generations to present at an earlier age
and/or with more severe manifestations; often observed in disorders
resulting from the expression of a trinucleotide repeat mutation that
tends to increase in size and have a more significant effect when
passed from one generation to the next



Related Terms: intrafamilial variability; mutable normal allele;
trinucleotide repeat; trinucleotide repeat testing; variable
expressivity




Array genomic hybridization: (synonyms: array comparative genomic
hybridization, chromosomal microarray analysis, comparative genomic
hybridization (CGH), genomic microarray analysis, high resolution
metaphase CGH, HR-CHG) A method of examining multiple loci
simultaneously to identify genetic imbalance caused by the gain or
loss of chromosomal material ranging in size from a whole chromosome
to a tiny fraction of a single chromosomal band


Related Terms: Deletion/duplication analysis




Ashkenazi Jewish: (synonym: Eastern European Jewish) The Eastern
European Jewish population primarily from Germany, Poland, and
Russia, as opposed to the Sephardic Jewish population primarily from
Spain, parts of France, Italy, and North Africa






autosomal: Refers to any of the chromosomes other than the sex-
determining chromosomes (i.e., the X and Y) or the genes on these
chromosomes






autosomal dominant: Describes a trait or disorder in which the
phenotype is expressed in those who have inherited only one copy of a
particular gene mutation (heterozygotes); specifically refers to a
gene on one of the 22 pairs of autosomes (non-sex chromosomes)



Related Terms: de novo mutation; germline mosaicism; heterozygote;
mode of inheritance; penetrance; variable expressivity




autosomal recessive: Describes a trait or disorder requiring the
presence of two copies of a gene mutation at a particular locus in
order to express observable phenotype; specifically refers to genes
on one of the 22 pairs of autosomes (non-sex chromosomes)



Related Terms: allele frequency; carrier; carrier testing; compound
heterozygote; consanguinity; heterozygote; homozygote; mode of
inheritance




background risk: (synonym: population risk) The proportion of
individuals in a given population who are affected with a particular
disorder or who have mutations in a certain gene; often discussed in
the genetic counseling process as a comparison to the patient's
personal risk given his/her family history or other circumstances



Related Terms: allele frequency; carrier rate; risk assessment; risk
assessment modification




band: When chromosomes at a particular stage in cell division are
stained using one of several types of preparations, a specific
pattern of light and dark stripes (bands) appear which can aid in
identifying the chromosome and evaluating its structure






band level: The total number of bands estimated to be present in a
haplotype set (23) of chromosomes. When cell division is arrested and
staining is performed at an earlier stage of mitosis (prometaphase),
chromosomes appear longer, with approximately 700-1200 bands. At a
later stage of mitosis (metaphase), chromosomes are more condensed,
with approximately 300-600 bands. At higher band levels, the greater
resolution increases the ability to identify more subtle chromosomal
abnormalities and their breakpoints.



Related Terms: chromosome; high-resolution chromosome studies;
karyotype




base pair: (synonym: bp) Two nitrogenous bases paired together in
double-stranded DNA by weak bonds; specific pairing of these bases
(adenine with thymine and guanine with cytosine) facilitates accurate
DNA replication; when quantified (e.g., 8 bp), refers to the physical
length of a sequence of nucleotides



Related Terms: codon; nucleotide; reading frame




benign variant: (synonym: polymorphism) An alteration in a gene
distinct from the normal, wild-type allele that does not appear to
have a deleterious effect


Related Terms: allelic variant of unknown significance




carrier: An individual who has a recessive, disease-causing gene
mutation at a particular locus on one chromosome of a pair and a
normal allele at that locus on the other chromosome; may also refer
to an individual with a balanced chromosome rearrangement



Related Terms: X-linked recessive; autosomal recessive; carrier rate;
carrier testing; compound heterozygote; double heterozygote;
heterozygote; obligate carrier; obligate heterozygote




carrier rate: (synonym: carrier freqency) The proportion of
individuals in a population who have a single copy of a specific
recessive gene mutation



Related Terms: allele frequency; carrier; heterozygote




carrier testing: (synonyms: carrier detection, heterozygote testing)
Testing used to identify usually asymptomatic individuals who have a
gene mutation for an autosomal recessive or X-linked disorder



Related Terms: X-linked dominant; X-linked recessive; autosomal
recessive; carrier; heterozygote; homozygote; molecular genetic
testing; mutation




centimorgan: The unit of linkage that refers to the distance between
two gene loci determined by the frequency with which recombination
occurs between them. Two loci are said to be one centimorgan apart if
recombination is observed between them in 1% of meioses.






chromosome: Physical structure consisting of a large DNA molecule
organized into genes and supported by proteins called chromatin



Related Terms: aneuploidy; autosomal; cytogenetics; derivative
chromosome; homologous chromosomes; karyotype; polyploidy




chromosome breakage studies: Cytogenetic testing to detect an
increased rate of chromosomal breakage or rearrangement in metaphase
cells by exposing cell cultures to clastogenic agents such as
diepoxybutane (DEB) or mitomycin C (MMC); cell cultures not exposed
to the DNA clastogenic agent are used as controls to measure the
spontaneous rate of chromosomal breakage or rearrangement.






cis configuration: (synonyms: cis, coupling) Term which indicates
that an individual who is heterozygous at two neighboring loci has
the two mutations in question on the same chromosome



Related Terms: double heterozygote; pseudogene; variable expressivity




clone: An identical copy of a DNA sequence or entire gene; one or
more cells derived from and identical to a single ancestor cell; to
isolate a gene or specific sequence of DNA






coding region: (synonym: open reading frame) All exons of a gene that
contribute to the protein product(s) of the gene



Related Terms: codon; exon; intron; promoter region; reading frame




codon: In DNA or RNA, a sequence of three nucleotides that codes for
a certain amino acid or signals the termination of translation (stop
or termination codon)






comparative genomic hybridization: See array genomic hybridization.


Related Terms: Array genomic hybridization




compound heterozygote: An individual who has two different abnormal
alleles at a particular locus, one on each chromosome of a pair;
usually refers to individuals affected with an autosomal recessive
disorder



Related Terms: autosomal recessive; carrier; double heterozygote;
heterozygote; homozygote




conformation-sensitive gel electrophoresis: (synonym: CSGE) A type of
mutation scanning in which a segment of DNA is screened for mismatch
pairing between normal and mutated base pairs.



Related Terms: Analysis of the entire coding region: Mutation
scanning; Analysis of the entire coding region: Sequence analysis;
DNA-based testing; Targeted mutation analysis; denaturing gradient
gel electrophoresis; molecular genetic testing; polymerase chain
reaction (PCR); single-stranded conformational polymorphism




congenital: Present from birth, but not necessarily genetic






consanguinity: Genetic relatedness between individuals descended from
at least one common ancestor



Related Terms: autosomal recessive; family history; pedigree




consultand: The individual (not necessarily affected) who presents
for genetic counseling and through whom a family with an inherited
disorder comes to medical attention






contiguous gene syndrome: A constellation of findings caused by a
small chromosome deletion or duplication that spans two or more
adjacent genes



Related Terms: FISH; deletion; duplication; high-resolution
chromosome studies; microdeletion syndrome




cosegregation: The inclusion of two or more linked genes on a
chromosome in the same gamete leading to their transmission together



Related Terms: crossing over; flanking marker; homologous
chromosomes; intragenic marker; linkage analysis; marker;
recombination




critical region: The specific portion of a chromosome or a gene that,
when altered in some way (deleted, duplicated, or otherwise mutated),
produces the characteristic set of phenotypic abnormalities
associated with a particular syndrome or disorder






crossing over: (synonym: recombination) The exchange of a segment of
DNA between two homologous chromosomes during meiosis leading to a
novel combination of genetic material in the gamete



Related Terms: cosegregation; linkage analysis; marker




cryptic chromosome translocation: A chromosome translocation or
rearrangement detected by special techniques (e.g., fluorescent in
situ hybridization [FISH], telomeric detection) because it is too
small to be seen with conventional cytogenetic techniques






CSGE: (synonym: conformation-sensitive gel electrophoresis) A type of
mutation scanning in which a segment of DNA is screened for mismatch
pairing between normal and mutated base pairs.



Related Terms: Analysis of the entire coding region: Mutation
scanning; Analysis of the entire coding region: Sequence analysis;
DNA-based testing; Targeted mutation analysis; denaturing gradient
gel electrophoresis; molecular genetic testing; polymerase chain
reaction (PCR); single-stranded conformational polymorphism




custom mutation analysis: Molecular genetic testing for a given
specific mutation developed on an as-needed basis in a clinical
laboratory for diseases for which testing is not otherwise clinically
available. Situations in which custom mutation analysis may be used
include: a) testing for at-risk family members when a disease-causing
mutation has been identified in an affected family member in a
research laboratory; b) prenatal testing for families in which a
disease-causing mutation has been identified in an affected family
member by a laboratory not offering prenatal testing.






custom prenatal testing: Prenatal testing offered to families in
which disease-causing mutations have been identified in an affected
family member in either a research or clinical laboratory; testing is
not otherwise clinically available for prenatal diagnosis.






cytogenetics: The study of the structure, function, and abnormalities
of human chromosomes






de novo mutation: (synonyms: de novo gene mutation, new gene
mutation, new mutation) An alteration in a gene that is present for
the first time in one family member as a result of a mutation in a
germ cell (egg or sperm) of one of the parents or in the fertilized
egg itself



Related Terms: autosomal dominant; germline mosaicism; germline
mutation; sporadic




deletion: Absence of a segment of DNA; may be as small as a single
base or as large as one or more genes



Related Terms: DNA-based testing; FISH; band; chromosome; contiguous
gene syndrome; critical region; disease-causing mutation; high-
resolution chromosome studies; karyotype; microdeletion syndrome




Deletion/duplication analysis: (synonym: copy number analysis)
Molecular genetic testing using methods such as array genomic
hybridization; Multiplex Ligation-dependent Probe Amplification
(MLPA); quantitative, real-time, or deletion-specific PCR; or
Southern blot to identify deletions or duplications between about 40
bp and 40 Kb of DNA within a gene. These methods typically exclude
detection of smaller deletions or duplications of a few base pairs
(identified by sequencing, mutation scanning or targeted mutation
analysis). These methods also typically exclude detection of
chromosome deletions or duplications (identified by standard
chromosome analysis).






denaturing gradient gel electrophoresis: (synonym: DGGE)
Identification of mutations by electrophoresis of double-stranded DNA
samples through a denaturing gradient, such as urea. Certain
mutations affect the migration pattern by changing the point in the
gel at which the DNA denatures; mutant sequences can be distinguished
from wild-type sequences by comparing the electrophoretic pattern.






densitometry: Method of identifying gene dosage or expression by
measurement of light absorption on an autoradiogram (film) of a band
(or spot) representing a DNA, RNA, or protein sample; useful in
detecting duplication mutations and heterozygous deletion mutations






derivative chromosome: Term used to denote an abnormal chromosome
consisting of segments from two or more chromosomes joined together
as the result of a translocation, insertion, or other rearrangement






DGGE: (synonym: denaturing gradient gel electrophoresis)
Identification of mutations by electrophoresis of double-stranded DNA
samples through a denaturing gradient, such as urea. Certain
mutations affect the migration pattern by changing the point in the
gel at which the DNA denatures; mutant sequences can be distinguished
from wild-type sequences by comparing the electrophoretic pattern.






diagnostic testing: Testing designed to confirm or exclude a known or
suspected genetic disorder in a symptomatic individual or,
prenatally, in a fetus at risk for a certain genetic condition



Related Terms: DNA-based testing; direct DNA analysis; karyotype;
linkage analysis; molecular genetic testing; predictive testing;
prenatal diagnosis




diploid: The normal number of chromosomes in a somatic cell; in
humans, 46 chromosomes (22 pairs of autosomes and two sex
chromosomes)






direct DNA analysis: (synonym: direct DNA) The use of any test
method, such as sequence analysis, mutation scanning, or mutation
analysis to detect a mutation in a gene



Related Terms: Analysis of the entire coding region: Mutation
scanning; Analysis of the entire coding region: Sequence analysis;
Targeted mutation analysis; linkage analysis




disease-causing mutation: A gene alteration that causes or
predisposes an individual to a specific disease






DNA: (synonym: deoxyribonucleic acid) The molecule which encodes the
genes responsible for the structure and function of an organism and
allows for transmission of genetic information from one generation to
the next






DNA banking: The process through which DNA is extracted from any of a
number of possible cell sources and stored indefinitely by freezing
or refrigerating for future testing; done when a specific test is not
presently available or when the decision to have testing has not been
made



Related Terms: DNA-based testing; informed consent; molecular genetic
testing




DNA-based testing: (synonyms: DNA testing, molecular genetic testing)
Testing that involves the analysis of DNA, either through linkage
analysis, sequencing, or one of several methods of mutation detection






domain: A specific region or amino acid sequence in a protein
associated with a particular function or corresponding segment of DNA






dominant: See autosomal dominant or X-linked dominant.






dominant negative mutation: A mutation whose gene product adversely
affects the normal, wild-type gene product within the same cell,
usually by dimerizing (combining) with it. In cases of polymeric
molecules, such as collagen, dominant negative mutations are often
more deleterious than mutations causing the production of no gene
product (null mutations or null alleles).






dosage analysis: Method of measuring the quantity of a variety of
analytes, including DNA, RNA, and protein, by comparison with a known
standard; can be used to determine the number of copies of a sequence
of DNA (i.e., to test for duplication and deletion mutations) either
by visual comparison of band intensity or numerical quantification by
densitometry. If extra copies of a gene are present, intensity is
greater than 100% on a gel or film; whereas, if one copy of the gene
is missing, the intensity is approximately 50%.






double heterozygote: An individual who is heterozygous for a mutation
at each of two separate genetic loci



Related Terms: carrier; cis configuration; heterozygote; homozygote;
locus; trans configuration




duplication: The presence of an extra segment of DNA, resulting in
redundant copies of a portion of a gene, an entire gene, or a series
of genes, usually caused by unequal crossing-over during gene
replication when gametes are formed in meiosis






dysmorphology: The clinical study of malformation syndromes






enzyme assay: Measurement of enzyme activity with a particular
substrate; can be assessed in a variety of ways including
quantification of the end product or colorimetric analysis






euploid: Any chromosome number that is a multiple of the haploid
number






exon: Coding sequence of DNA present in mature messenger RNA



Related Terms: coding region; intron; open reading frame




exon scanning: The process by which certain exons (coding regions
within a gene), under highest suspicion to contain a specific
mutation, are subjected to testing via conformation sensitive gel
electrophoresis (CSGE), single-stranded conformational-polymorphism
(SSCP), denaturing gradient gel electrophoresis (DGGE), or other
means deemed most appropriate, to confirm the presence of a mutation
before use of further testing, such as sequencing, to delineate the
exact nature of the mutation; used to expedite analysis when the
disorder in question can be caused by numerous possible mutations
within a gene






false negative result: A test result which indicates that an
individual is unaffected and/or does not have a particular gene
mutation when he or she is actually affected and/or does have a gene
mutation; i.e., a negative test result in an affected individual






false paternity: (synonyms: alternate paternity, nonpaternity) The
situation in which the alleged father of a particular individual is
not the biological father






false positive result: A test result which indicates that an
individual is affected and/or has a certain gene mutation when he or
she is actually unaffected and/or does not have the mutation; i.e., a
positive test result in a truly unaffected individual






familial: A phenotype that occurs in more than one family member; may
have genetic or non-genetic etiology






family history: The genetic relationships and medical history of a
family; when represented in diagram form using standardized symbols
and terminology, usually referred to as a pedigree


Related Terms: pedigree




family-specific mutation: In a family, the sequence alteration
observed that causes or predisposes to a particular disease; the
mutation may be rare or common






Family-specific mutation analysis: Testing for the specific disease-
causing mutation(s) previously identified in a family member. Note:
Family-specific mutation analysis is different from targeted mutation
analysis






first-degree relative: Any relative who is one meiosis away from a
particular individual in a family (i.e., parent, sibling, offspring)



Related Terms: family history; pedigree; second-degree relative




FISH: (synonym: fluorescent in situ hybridization) A technique used
to identify the presence of specific chromosomes or chromosomal
regions through hybridization (attachment) of fluorescently-labeled
DNA probes to denatured chromosomal DNA. Examination under
fluorescent lighting detects the presence of the hybridized
fluorescent signal (and hence presence of the chromosome material) or
absence of the hybridized fluorescent signal (and hence absence of
the chromosome material).







FISH-interphase: A technique used to identify the presence of
specific chromosomes or chromosomal regions through hybridization
(attachment) of fluorescently-labeled DNA probes to denatured
chromosomal DNA. Examination under fluorescent lighting detects the
presence of the hybridized fluorescent signal (and hence presence of
the chromosome material) or absence of the hybridized fluorescent
signal (and hence absence of the chromosome material). With
interphase FISH, probes are introduced directly to the interphase
cell. Interphase FISH is often used for rapid detection of specific
types of aneuploidy in fetal cells and for the detection of certain
deletions, duplications and other abnormalities in tumor cells. In
contract to metaphase FISH, interphase FISH does not permit
visualization of the actual chromosomes; therefore, certain
structural rearrangements or aneuploidy will not be detected.


Related Terms: FISH-metaphase; aneuploidy; probe




FISH-metaphase: A technique used to identify the presence of specific
chromosomes or chromosomal regions through hybridization (attachment)
of fluorescently-labeled DNA probes to denatured chromosomal DNA.
Examination under fluorescent lighting detects the presence of the
hybridized fluorescent signal (and hence presence of the chromosome
material) or absence of the hybridized fluorescent signal (and hence
absence of the chromosome material). With metaphase FISH, cells
progress through the division process until metaphase, when
chromosomes are condensed and can be individually distinguished. In
contrast to interphase FISH, metaphase FISH permits visualization of
the actual chromosomes as well as the general location of the
abnormality on the chromosome.


Related Terms: FISH-interphase; probe




flanking marker: An identifiable, polymorphic region of DNA (i.e.,
marker) located to the side of a gene (i.e., flanking), as opposed to
an intragenic marker which is located within the gene itself.
Flanking markers are used in linkage analysis to track the
coinheritance of the gene in question.






flanking microsatellite analysis: The use of highly variable
repetitive sequences found in microsatellite regions adjacent to
genes or other areas of interest as markers for linkage analysis, DNA
fingerprinting, or other diagnostic application






fluorescent in situ hybridization: (synonym: FISH) A technique used
to identify the presence of specific chromosomes or chromosomal
regions through hybridization (attachment) of fluorescently-labeled
DNA probes to denatured chromosomal DNA. Examination under
fluorescent lighting detects the presence of the hybridized
fluorescent signal (and hence presence of the chromosome material) or
absence of the hybridized fluorescent signal (and hence absence of
the chromosome material).







founder effect: A gene mutation observed in high frequency in a
specific population due to the presence of that gene mutation in a
single ancestor or small number of ancestors



Related Terms: allele frequency; population risk




frameshift mutation: (synonyms: out-of-frame deletion, out-of-frame
mutation) An insertion or deletion involving a number of base pairs
that is not a multiple of three and consequently disrupts the triplet
reading frame, usually leading to the creation of a premature
termination (stop) codon and resulting in a truncated protein product






full penetrance allele: In autosomal dominant, autosomal recessive,
and X-linked disorders caused by nucleotide repeat expansion, an
abnormally large allele that is associated with disease
manifestations



Related Terms: anticipation; mutable normal allele; reduced
penetrance allele; trinucleotide repeat; trinucleotide repeat testing




gametogenesis: (synonyms: oogenesis, spermatogenesis) The meiotic
process by which mature gametes (ova and sperm) are formed. Oogenesis
refers specifically to the production of ova and spermatogenesis to
the production of sperm.






gene: The basic unit of heredity, consisting of a segment of DNA
arranged in a linear manner along a chromosome. A gene codes for a
specific protein or segment of protein leading to a particular
characteristic or function.



Related Terms: allele; genome; genotype; mutation




gene conversion: The transfer of DNA sequences between two very
similar genes, most often by unequal crossing over during meiosis;
can be a mechanism for mutation if the transfer of material disrupts
the coding sequence of the gene or if the transferred material itself
contains one or more mutations



Related Terms: pseudogene; recombination; unequal crossing over




gene product: Genes are transcribed into segments of RNA (ribonucleic
acid), which are translated into proteins. Both RNA and proteins are
products of the expression of the gene.



Related Terms: DNA; RNA; dosage analysis; gene; isoforms; protein
truncation testing; transcription; translation




gene symbol: A unique abbreviation of a gene name consisting of
italicized uppercase Latin letters and Arabic numbers formally
assigned by the by HUGO Gene Nomenclature Committee after a gene has
been identified (Note: a putative gene may be referred to by its
locus name prior to its identification)



Related Terms: locus name




gene therapy: Experimental treatment of a genetic disorder by
replacing, supplementing, or manipulating the expression of abnormal
genes with normally functioning genes






gene transfer: The transfer of genetic material, ranging from a small
segment of DNA to the entire genome, from a human cell to another
type of cell in culture in order to study the frequency with which
known genetic markers are transferred together to the recipient
genome; used to determine the physical proximity of genetic markers
in the human genome; also used to study gene expression and
regulation






genetic counseling: A process, involving an individual or family,
comprising: evaluation to confirm, diagnose, or exclude a genetic
condition, malformation syndrome, or isolated birth defect;
discussion of natural history and the role of heredity;
identification of medical management issues; calculation and
communication of genetic risks; provision of or referral for
psychosocial support






genetic predisposition: (synonym: genetic susceptibility) Increased
susceptibility to a particular disease due to the presence of one or
more gene mutations associated with an increased risk for the disease
and/or a family history that indicates an increased risk for the
disease






genome: The complete DNA sequence, containing all genetic information
and supporting proteins, in the chromosomes of an individual or
species






genomic microarray analysis: See array genomic hybridization.


Related Terms: Array genomic hybridization




genotype: The genetic constitution of an organism or cell; also
refers to the specific set of alleles inherited at a locus






genotype-phenotype correlation: The association between the presence
of a certain mutation or mutations (genotype) and the resulting
pattern of abnormalities (phenotype)



Related Terms: genotype; phenotype




genotyping: Testing that reveals the specific alleles inherited by an
individual; particularly useful for situations in which more than one
genotypic combination can produce the same clinical presentation, as
in the ABO blood group, where both the AO and AA genotypes yield type
A blood






germline: The cell line from which egg or sperm cells (gametes) are
derived






germline mosaicism: Two or more genetic or cytogenetic cell lines
confined to the precursor (germline) cells of the egg or sperm;
formerly called gonadal mosaicism






germline mutation: The presence of an altered gene within the egg or
sperm (germ cell), such that the altered gene can be passed to
subsequent generations



Related Terms: de novo mutation; germline; germline mosaicism




gonadal mosaicism: See germline mosaicism.






haploid: Half the diploid or normal number of chromosomes in a
somatic cell; the number of chromosomes in a gamete (egg or sperm)
cell, which in humans is 23 chromosomes, one chromosome from each
chromosome pair






haploinsufficiency: The situation in which an individual who is
heterozygous for a certain gene mutation or hemizygous at a
particular locus, often due to a deletion of the corresponding
allele, is clinically affected because a single copy of the normal
gene is incapable of providing sufficient protein production as to
assure normal function






haplotype analysis: Molecular genetic testing to identify a set of
closely linked segments of DNA; used in linkage analysis or when a
given trait is in linkage disequilibrium with a marker or set of
markers






hemizygous: The situation in which an individual has only one member
of a chromosome pair or chromosome segment rather than the usual two;
refers in particular to X-linked genes in males who under normal
circumstances have only one X chromosome



Related Terms: X-linked dominant; X-linked recessive; heterozygote;
homologous chromosomes; homozygote




heteroplasmy: The situation in which, within a single cell, there is
a mixture of mitochondria (energy producing cytoplasmic organelles),
some containing mutant DNA and some containing normal DNA


Related Terms: mitochondrial inheritance; pleiotropy; variable
expressivity




heterozygote: An individual who has two different alleles at a
particular locus, one on each chromosome of a pair; one allele is
usually normal and the other abnormal



Related Terms: carrier; homozygote; obligate carrier; obligate
heterozygote




high-resolution chromosome studies: Analysis of the number and
structure of the chromosomes when cell division has been arrested and
the chromosomes stained at an early stage (pro-metaphase) of mitosis.
The chromosomes of a high resolution study appear longer and reveal
700-1200 bands, allowing more detailed analysis of the chromosome
structure, as opposed to the typical 300-600 bands observed with
routine metaphase banding.






homologous chromosomes: (synonym: homologs) The two chromosomes from
a particular pair, normally one inherited from the mother and one
from the father, containing the same genetic loci in the same order



Related Terms: chromosome; cytogenetics; hemizygous; karyotype;
monosomy; polyploidy; recombination; trisomy; trisomy rescue;
uniparental disomy




homozygote: An individual who has two identical alleles at a
particular locus, one on each chromosome of a pair



Related Terms: compound heterozygote; heterozygote




hotspot mutation region: DNA sequences of high susceptibility to
mutation due to some inherent instability, tendency toward unequal
crossing over, or chemical predisposition to single nucleotide
substitutions; region where mutations are observed with greater
frequency






immunohistochemistry: Testing to detect the presence of specific
proteins in cells or tissues by means of a specific antigen/antibody
reaction tagged with a visible label






imprinting: The process by which maternally and paternally derived
chromosomes are uniquely chemically modified leading to different
expression of a certain gene or genes on those chromosomes depending
on their parental origin



Related Terms: trisomy rescue; uniparental disomy




in-frame mutation: A mutation that does not cause a shift in the
triplet reading frame; such mutations can, however, lead to the
synthesis of an abnormal protein product






incomplete autosomal dominant: An inheritance pattern in which the
phenotypes observed lie on a continuum (differing in degree or kind)
depending on whether one or two mutated alleles are present






informativeness: In linkage analysis, the ability to distinguish
between maternally-inherited and paternally-inherited DNA markers
(polymorphisms) within or near a given gene of interest



Related Terms: haplotype analysis; linkage analysis; polymorphism




informed consent: Permission given by an individual to proceed with a
specific test or procedure, with an understanding of the risks,
benefits, limitations, and potential implications of the procedure
itself and its results






insertion: A chromosome abnormality in which material from one
chromosome is inserted into another nonhomologous chromosome; a
mutation in which a segment of DNA is inserted into a gene or other
segment of DNA, potentially disrupting the coding sequence






interfamilial variability: Variability in clinical presentation of a
particular disorder among affected individuals from different
families






intrafamilial variability: Variability in clinical presentation of a
particular disorder among affected individuals within the same
immediate or extended family






intragenic marker: An identifiable, polymorphic region of DNA (i.e.,
marker) located within a gene (i.e., intragenic), as opposed to a
flanking marker, which is located on either side of a gene.
Intragenic markers are used in linkage analysis to track the
coinheritance of the gene in question.






intron: Non-coding sequence of DNA removed from mature messenger RNA
prior to translation



Related Terms: RNA; coding region; exon; intronic mutation; splicing;
transcription; translation




intronic mutation: A mutation (usually a base substitution) within an
intron that creates an alternative splice site that competes with the
normal splice sites during RNA processing. Such a mutation results in
a proportion of mature messenger RNA with improperly spliced intron
sequences.






inversion: A chromosomal rearrangement in which a segment of a
chromosome has inverted from end to end, and re-inserted into the
chromosome at the same breakage site. Balanced inversions (in which
no net loss or gain of genetic material occurs) are usually not
associated with phenotypic abnormalities, however, in some cases,
gene disruptions at the breakpoints can cause adverse phenotypic
effects, including some known genetic diseases. Unbalanced inversions
(in which loss or gain of chromosome material occurs) nearly always
yield an abnormal phenotype.






isoelectric focusing: Method of mutation detection by which proteins
are separated according to the pH at which their net charge is zero
(isoelectric point); often used in conjunction with a western blot to
allow identification of wild-type versus mutant protein products. A
DNA sequence alteration resulting in an amino acid substitution can
change the isoelectric point of a protein.






isoforms: The protein products of different versions of messenger RNA
created from the same gene by employing different promoters, which
causes transcription to skip certain exons. Since the promoters are
tissue-specific, different tissues express different protein products
of the same gene.






isolated: An abnormality that occurs in the absence of other systemic
involvement






karyotype: A photographic representation of the chromosomes of a
single cell, cut and arranged in pairs based on their size and
banding pattern according to a standard classification







kindred: An extended family; term often used in linkage studies to
refer to large families






Known family-specific mutations: A specific disease-causing mutation
identified in an affected family member; testing is recommended for
other at-risk family members who might have that specific mutation;
for example, if sequence analysis identifies a disease-causing
mutation in an affected family member, all at-risk relatives need
only to be tested for their family-specific mutation.






linkage: The tendency for genes or segments of DNA closely positioned
along a chromosome to segregate together at meiosis and therefore be
inherited together






linkage analysis: (synonym: indirect DNA analysis) Testing DNA
sequence polymorphisms (normal variants) that are near or within a
gene of interest to track within a family the inheritance of a
disease-causing mutation in a given gene



Related Terms: direct DNA analysis; haplotype analysis; polymorphism;
recombination




linkage disequilibrium: In a population, co-occurrence of a specific
DNA marker and a disease at a higher frequency than would be
predicted by random chance






locus: The physical site or location of a specific gene on a
chromosome






locus heterogeneity: The situation in which mutations in genes at
different chromosomal loci cause the same phenotype



Related Terms: allele; allelic heterogeneity; genotype; locus;
mutation; phenotype




locus name: An informally assigned abbreviation used in the process
of mapping to designate a putative gene prior to gene identification;
once the gene is identified. The locus name is generally replaced by
a formally assigned gene symbol (which often differs from the locus
name).






loss of heterozygosity: (synonym: LOH) At a particular locus
heterozygous for a deleterious mutant allele and a normal allele, a
deletion or other mutational event within the normal allele renders
the cell either hemizygous (one deleterious allele and one deleted
allele) or homozygous for the deleterious allele



Related Terms: deletion; hemizygous; heterozygote; homozygote




lyonization: (synonym: X-chromosome inactivation) The phenomenon in
females by which one X chromosome (either maternally derived or
paternally derived) is randomly inactivated in early embryonic cells,
with fixed inactivation in all descendant cells; first described by
the geneticist Mary Lyon



Related Terms: X-chromosome inactivation study; X-linked dominant; X-
linked recessive; mosaicism; replication analysis




manifesting carrier: An individual who has, at a particular locus, a
recessive, disease-causing allele on one chromosome and a normal
allele on the other chromosome and who manifests some symptoms of the
disorder; generally refers to female carriers of an X-linked
recessive mutation who are clinically affected, although the
phenotype is usually less severe as compared to males with the same
mutation



Related Terms: X-chromosome inactivation; X-chromosome inactivation
study; X-linked recessive; carrier; heterozygote; lyonization




mapped gene: (synonym: mapped phenotype) A gene or phenotype whose
relative position on a segment of DNA or on a chromosome has been
established






marker: An identifiable segment of DNA (e.g., RFLP, VNTR,
microsatellite) with enough variation between individuals that its
inheritance and co-inheritance with alleles of a given gene can be
traced; used in linkage analysis






marker chromosome: A small chromosome containing a centromere
occasionally seen in tissue culture, often in a mosaic state (present
in some cells but not in others). A marker chromosome may be of
little clinical significance or, if it contains material from one or
both arms of another chromosome, may create an imbalance for whatever
genes are present; assessment to establish clinical significance,
particularly if found in a fetal karyotype, is often difficult.


Related Terms: supernumary chromosome




maternal contamination: The situation which occurs in prenatal
testing in which a sample of chorionic villus, amniotic fluid, or
umbilical blood becomes contaminated with maternal (usually blood)
cells, which can confound interpretation of the results of genetic
analysis






methylation: The attachment of methyl groups to DNA at cytosine
bases; correlated with reduced transcription of the gene and thought
to be the principal mechanism in X-chromosome inactivation and
imprinting






methylation analysis: Testing that evaluates the methylation status
of a gene (attachment of methyl groups to DNA cytosine bases); genes
that are methyalted are not expressed; methylation plays a role in X-
chromosome inactivation and imprinting



Related Terms: Analysis of the entire coding region: Sequence
analysis; Southern blot; X-chromosome inactivation study; imprinting;
methylation




microdeletion syndrome: (synonym: contiguous gene deletion syndrome)
A syndrome caused by a chromosomal deletion spanning several genes
that is too small to be detected under the microscope using
conventional cytogenetic methods. Depending on the size of the
deletion, other techniques, such as FISH or other methods of DNA
analysis can sometimes be employed to identify the deletion






microsatellite: (synonyms: satellite DNA, short tandem repeats)
Repetitive segments of DNA two to five nucleotides in length
(dinucleotide/trinucleotide/tetranucleotide/pentanucleotid e
repeats), scattered throughout the genome in non-coding regions
between genes or within genes (introns), often used as markers for
linkage analysis because of the naturally occurring high variability
in repeat number between individuals. These regions are inherently
unstable and susceptible to mutations.






microsatellite instability: (synonyms: MSI, replication error
phenotype, RER) The presence of a discrepancy between the size of
microsatellites in DNA from tumor tissue compared to nontumor tissue
from the same person, resulting from mutations in a gene in the DNA
mismatch repair pathway (MMR) that would normally correct these
errors.






microsatellite instability testing: (synonym: MSI testing) Used to
identify tumors caused by defective mismatch repair by comparing the
number of nucleotide repeats in a panel of microsatellite markers in
normal tissue with the number from tumor tissue from the same
individual. Microsatellite stability (MSS) is present if the same
number of repeats is present in each marker in both the tumor and the
normal tissue. Microsatellite instability (MSI) is present if the
number of repeats in the tumor and the normal tissue differs.



Related Terms: microsatellite; microsatellite instability; mismatch
repair mechanism




mismatch repair mechanism: (synonym: mismatch repair) The DNA 'proof-
reading' system controlled by certain genes that identifies, excises,
and corrects errors in the pairing of the bases during DNA
replication. Mutations in the genes responsible for this mechanism
can lead to certain genetic diseases and some forms of cancer.






missense mutation: A single base pair substitution that results in
the translation of a different amino acid at that position






mitochondrial inheritance: Mitochondria, cytoplasmic organelles that
produce the energy source ATP for most chemical reactions in the
body, contain their own distinct genome; mutations in mitochondrial
genes are responsible for several recognized syndromes and are always
maternally inherited since ova contain mitochondria, whereas sperm do
not



Related Terms: heteroplasmy; mode of inheritance; penetrance;
pleiotropy; variable expressivity




mode of inheritance: (synonyms: inheritance pattern, pattern of
inheritance) The manner in which a particular genetic trait or
disorder is passed from one generation to the next. Autosomal
dominant, autosomal recessive, X-linked dominant, X-linked recessive,
multifactorial, and mitrochondrial inheritance are examples






molecular genetic testing: (synonyms: DNA testing, DNA-based testing,
molecular testing) Testing that involves the analysis of DNA, either
through linkage analysis, sequencing, or one of several methods of
mutation detection






monosomy: The presence of only one chromosome from a pair; partial
monosomy refers to the presence of only one copy of a segment of a
chromosome






mosaicism: Within a single individual or tissue, the occurrence of
two or more cell lines with different genetic or chromosomal
constitutions



Related Terms: germline mutation; post-zygotic event




Multicolor FISH (M-FISH)/Spectral Karyotyping(™) (SKY(™)): (synonyms:
Multi-color-FISH, Multi-FISH, Multi-target) SKY and M-FISH
utilize "whole chromosome paint" DNA probes, which are labeled with a
unique fluorescent color for each of the 24 human chromosomes. The
technique visualizes and thus identifies chromosomal material in
marker chromosomes and subtle translocations whose origin cannot be
determined by other cytogenetic techniques.






multifactorial inheritance: (synonym: polygenic) The combined
contribution of one or more often unspecified genes and environmental
factors, often unknown, in the causation of a particular trait or
disease






mutable normal allele: (synonyms: intermediate allele, premutation)
In disorders caused by nucleotide repeat expansion, an abnormally
large allele that is not associated with clinical symptoms but that
can expand into a reduced penetrance allele or a full penetrance
allele when transmitted to offspring. Mutable normal alleles are
larger than normal alleles and smaller than reduced penetrance
alleles and full penetrance alleles.



Related Terms: anticipation; full penetrance allele; reduced
penetrance allele; trinucleotide repeat; trinucleotide repeat testing




mutation: (synonyms: sequence alteration, splicing mutation) Any
alteration in a gene from its natural state; may be disease-causing
or a benign, normal variant



Related Terms: allelic variant of unknown significance; benign
variant; deletion; disease-causing mutation; frameshift mutation; in-
frame mutation; point mutation; polymorphism; trinucleotide repeat




mutation scanning: A process by which a segment of DNA is screened
via one of a variety of methods to identify variant gene region(s).
Variant regions are further analyzed (by sequence analysis or
mutation analysis) to identify the sequence alteration.



Related Terms: CSGE; DGGE; DNA-based testing; PCR; SSCP; Targeted
mutation analysis; molecular genetic testing; sequence analysis




Mutation scanning of select exons: A 2-step process by which specific
exons of a gene are first analyzed via one of a variety of methods
(such as CSGE, DGGE, SSCP, DHPLC or TGCE) to identify sequence
alternations. These methods do not identify the specific nucleotide
change(s) and must be followed by further analysis (usually
sequencing) to identify the specific sequence alteration






negative predictive value: The likelihood that an individual with a
negative test result is actually unaffected and/or does not have the
particular gene mutation in question






newborn screening: Testing done within days of birth to identify
infants at increased risk for a specific genetic disorder so that
treatment can begin as soon as possible; when a newborn screening
result is positive, further diagnostic testing is usually required to
confirm or specify the results and counseling is offered to educate
the parents



Related Terms: diagnostic testing; screening; sensitivity;
specificity




nonsense mutation: A single base pair substitution that prematurely
codes for a stop in amino acid translation (stop codon)






northern blot: (synonym: northern blotting analysis) The separation
of sequences or fragments of RNA, partially digested by
endonucleases, on an electrophoretic gel






novel mutation: A distinct gene alteration that has been newly
discovered; not the same as a 'new' or 'de novo' mutation






nucleotide: A molecule consisting of a nitrogenous base (adenine,
guanine, thymine, or cytosine in DNA; adenine, guanine, uracil, or
cytosine in RNA), a phosphate group, and a sugar (deoxyribose in DNA;
ribose in RNA). DNA and RNA are polymers of many nucleotides.






null allele: A mutation that results in either no gene product or the
absence of function at the phenotypic level






obligate carrier: (synonym: obligate heterozygote) An individual who
may be clinically unaffected but who must carry a gene mutation based
on analysis of the family history; usually applies to disorders
inherited in an autosomal recessive or X-linked recessive manner



Related Terms: X-linked dominant; X-linked recessive; autosomal
dominant; carrier; heterozygote




obligate heterozygote: (synonym: obligate heterozygote) An individual
who may be clinically unaffected but who must carry a gene mutation
based on analysis of the family history; usually applies to disorders
inherited in an autosomal recessive and X-linked recessive manner






open reading frame: (synonym: ORF) All exons of a gene that
contribute to the protein product(s) of the gene






paracentric inversion: An inversion in which the breakpoints are
confined to one arm of a chromosome; the inverted segment does not
span the centromere






parent-of-origin studies: An analysis used to determine whether a
particular chromosome or segment of DNA was inherited from an
individual's mother or father; helpful in the diagnosis of disorders
in which imprinting or uniparental disomy is a possible underlying
etiological mechanism






parentage testing: (synonyms: maternity testing, paternity testing)
The process through which DNA sequences from a particular child and a
particular adult are compared to estimate the likelihood that the two
individuals are related; DNA testing can reliably exclude but cannot
absolutely confirm an individual as a biological parent






PCR: (synonym: polymerase chain reaction) A procedure that produces
millions of copies of a short segment of DNA through repeated cycles
of: 1) denaturation, 2) annealing, and 3) elongation; PCR is a very
common procedure in molecular genetic testing and may be used to: 1)
generate a sufficient quantity of DNA to perform a test (e.g.,
sequence analysis, mutation scanning), or 2) may be a test in and of
itself (e.g., allele-specific amplification, trinucleotide repeat
quantification).



Related Terms: Analysis of the entire coding region: Mutation
scanning; Analysis of the entire coding region: Sequence analysis;
Southern blot; Targeted mutation analysis; X-chromosome inactivation
study; conformation-sensitive gel electrophoresis; denaturing
gradient gel electrophoresis; restriction fragment length
polymorphism analysis; single-stranded conformational polymorphism




pedigree: A diagram of the genetic relationships and medical history
of a family using standard symbols and terminology



Related Terms: consanguinity; consultand; obligate carrier; proband




penetrance: The proportion of individuals with a mutation causing a
particular disorder who exhibit clinical symptoms of that disorder;
most often refers to autosomal dominant conditions.



Related Terms: autosomal dominant; intrafamilial variability;
variable expressivity




pericentric inversion: An inversion in which the breakpoints occur on
both arms of a chromosome. The inverted segment spans the centromere.






phenotype: The observable physical and/or biochemical characteristics
of the expression of a gene; the clinical presentation of an
individual with a particular genotype



Related Terms: allelic heterogeneity; dysmorphology; genotype;
genotype-phenotype correlation; locus heterogeneity; variable
expressivity




phenotyping: Diagnostic testing and inference of a particular
genotype based on clinical or biochemical presentation (phenotype) of
the individual, such as measurement of alpha-1-antitrypsin level,
which is greatly reduced in individuals homozygous for the Z allele.
With the advent of DNA-based testing, direct mutation analysis
(genotyping) is becoming more widely available for many disorders.






pleiotropy: Multiple, often seemingly unrelated, physical effects
caused by a single altered gene or pair of altered genes






point mutation: An alteration in DNA sequence caused by a single
nucleotide base change, insertion, or deletion






polygenic: A condition caused by the additive contributions of
mutations in multiple genes at different loci






polymerase chain reaction (PCR): A procedure that produces millions
of copies of a short segment of DNA through repeated cycles of: 1)
denaturation, 2) annealing, and 3) elongation; PCR is a very common
procedure in molecular genetic testing and may be used to: 1)
generate a sufficient quantity of DNA to perform a test (e.g.,
sequence analysis, mutation scanning), or 2) may be a test in and of
itself (e.g., allele-specific amplification, trinucleotide repeat
quantification).



Related Terms: Analysis of the entire coding region: Mutation
scanning; Analysis of the entire coding region: Sequence analysis;
Southern blot; Targeted mutation analysis; X-chromosome inactivation
study; conformation-sensitive gel electrophoresis; denaturing
gradient gel electrophoresis; restriction fragment length
polymorphism analysis; single-stranded conformational polymorphism




polymorphism: Natural variations in a gene, DNA sequence, protein, or
chromosome that have no adverse effect on the individual and occur
with fairly high frequency in the general population



Related Terms: allele; allelic variant of unknown significance;
benign variant; mutation; restriction fragment length polymorphism




polyploidy: An increase in the number of haploid sets (23) of
chromosomes in a cell. Triploidy refers to three whole sets of
chromosomes in a single cell (in humans, a total of 69 chromosomes
per cell); tetraploidy refers to four whole sets of chromosomes in a
single cell (in humans, a total of 92 chromosomes per cell).






population risk: (synonym: background risk) The proportion of
individuals in the general population who are affected with a
particular disorder or who carry a certain gene; often discussed in
the genetic counseling process as a comparison to the patient's
personal risk given his or her family history or other circumstances






positional cloning: (synonym: reverse genetics) The cloning or
identification of a gene for a particular disease based on its
location in the genome, determined by a collection of methods
including linkage analysis, genomic (physical) mapping, and
bioinformatics, when no information about the biochemical basis of
the disease is known; distinguished from the more common strategy of
gene cloning beginning with a known protein product, determining its
amino acid sequence, and using that information to isolate the gene






positive predictive value: (synonym: PPV) The likelihood that an
individual with a positive test result actually has the particular
gene in question, is affected, or will develop the disease






post-zygotic event: A mutational event or abnormality in chromosome
replication/segregation that occurs after fertilization of the ovum
by the sperm, often leading to mosaicism (two or more genetically
distinct cell lines within the same organism)



Related Terms: germline mosaicism; mosaicism; somatic mosaicism;
trisomy rescue




predictive testing: Testing offered to asymptomatic individuals with
a family history of a genetic disorder and a potential risk of
eventually developing the disorder



Related Terms: DNA-based testing; disease-causing mutation; molecular
genetic testing; predisposing mutation; susceptibility gene




predisposing mutation: (synonym: susceptibility gene) A gene mutation
that increases an individual's susceptibility or predisposition to a
certain disease or disorder. When such a mutation is inherited,
development of symptoms is more likely but not certain.






predispositional testing: Testing of an asymptomatic individual in
whom the discovery of a gene mutation indicates that eventual
development of findings related to a specific diagnosis is likely but
not certain. A negative result may not exclude the possibility of
future development of the disease from other causes.






preimplantation diagnosis: (synonym: preimplantation testing) A
procedure used to decrease the chance of a particular genetic
condition for which the fetus is specifically at risk by testing one
cell removed from early embryos conceived by in vitro fertilization
and transferring to the mother's uterus only those embryos determined
not to have inherited the mutation in question



Related Terms: DNA-based testing; Targeted mutation analysis;
diagnostic testing; direct DNA analysis; molecular genetic testing;
polymerase chain reaction (PCR); prenatal diagnosis




prenatal diagnosis: (synonym: prenatal testing) Testing performed
during pregnancy to determine if a fetus is affected with a
particular disorder. Chorionic villus sampling (CVS), amniocentesis,
periumbilical blood sampling (PUBS), ultrasound, and fetoscopy are
examples of procedures used either to obtain a sample for testing or
to evaluate fetal anatomy.



Related Terms: diagnostic testing; screening




presymptomatic testing: Testing of an asymptomatic individual in whom
the discovery of a gene mutation indicates certain development of
findings related to a specific diagnosis at some future point. A
negative result excludes the diagnosis.






private mutation: (synonym: unique mutation) A rare disease-causing
mutation observed in a few families






proband: (synonyms: index case, propositus) The affected individual
through whom a family with a genetic disorder is ascertained; may or
may not be the consultand (the individual presenting for genetic
counseling)



Related Terms: affected; consultand; pedigree




probe: A specific, pre-fabricated sequence of DNA or RNA, labeled by
one of several methods, used to detect the presence of a
complimentary sequence by binding (hybridizing) to it



Related Terms: FISH; Southern blot; Targeted mutation analysis;
restriction fragment length polymorphism analysis




promoter region: A specific region just upstream from a gene that
acts as a binding site for transcription factors and RNA polymerase
during the initiation of transcription






protein analysis: One of several different testing methods that
reveals either the structure or function of a particular protein
product






protein expression: Testing to examine the expression of a mutation
in a recombinant protein to confirm its pathogenicity






protein functional assay: Measurement of the rate of a chemical
reaction that takes place in the presence of an enzyme contained in a
sample taken from an individual. Reduced enzymatic activity may
indicate carrier status or the diagnosis of a particular genetic
disease






protein truncation testing: (synonym: PTT) Means of identifying the
shortened (truncated) proteins that result from mutations which
specifically cause premature termination of mRNA translation



Related Terms: PCR; direct DNA analysis; western blot




pseudodominant inheritance: An autosomal recessive condition present
in individuals in two or more generations of a family, thereby
appearing to follow a dominant inheritance pattern. Common
explanations include: 1) a high carrier frequency; 2) birth of an
affected child to an affected individual and a genetically related
(consanguineous) reproductive partner






pseudogene: A copy of a gene that usually lacks introns and other
essential DNA sequences necessary for function; pseudogenes, though
genetically similar to the original functional gene, are not
expressed and often contain numerous mutations



Related Terms: deletion; duplication; gene conversion; unequal
crossing over




quantitative PCR: (synonyms: kinetic quantitative PCR, real time
quantitative PCR) The use of PCR to determine the amount of DNA or
RNA in a sample; commonly used to detect heterozygous deletion
mutations and duplication mutations



Related Terms: PCR; Targeted mutation analysis; deletion;
duplication; heterozygote




radiosensitivity testing: (synonyms: colony survival essay, CSA)
Testing specific to ataxia-telangiectasia (A-T) and other disorders
in which cells are particularly sensitive to ionizing radiation;
demonstrates colony formation of a blood lymphocyte cell line
following irradiation, which is abnormal in approximately 99% of
patients with clinically diagnosed A-T, though the sensitivity of
such testing in light of a suspected but unsure diagnosis of A-T has
not yet been documented






reading frame: (synonym: exon) A sequence of messenger RNA that is
translated into an amino acid chain, three bases at a time, each
triplet sequence coding for a single amino acid






rearrangement: A structural alteration in a chromosome, usually
involving breakage and reattachment of a segment of chromosome
material, resulting in an abnormal configuration; examples include
inversion and translocation






recessive: See autosomal recessive.






reciprocal translocation: A segment of one chromosome is exchanged
with a segment of another chromosome of a different pair



Related Terms: chromosome; deletion; derivative chromosome;
duplication; trisomy




recombination: (synonym: crossing over) The exchange of a segment of
DNA between two homologous chromosomes during meiosis leading to a
novel combination of genetic material in the gamete







recurrence risk: The likelihood that a trait or disorder present in
one family member will occur again in other family members in the
same or subsequent generations






reduced penetrance allele: (synonym: intermediate allele) In
autosomal dominant disorders caused by nucleotide repeat expansion,
an abnormally large allele that may or may not result in an abnormal
phenotype in a normal life span. The abnormal phenotype may be very-
late-onset disease and/or a different phenotype. Reduced penetrance
alleles are larger than mutable normal alleles and smaller than full
penetrance alleles.



Related Terms: anticipation; full penetrance allele; mutable normal
allele; trinucleotide repeat; trinucleotide repeat testing




reflex testing: Follow-up testing automatically initiated when
certain test results are observed in the laboratory; used to clarify
or elaborate on primary test results






replication analysis: (synonyms: replication banding, X-chromosome
inactivation study, XCI) A cytogenetic technique that uses
specialized banding procedures (replication banding) to identify the
late-replicating (inactive) X chromosome in cells. Because it is less
complicated, less expensive, and less subjective, molecular testing
is now used more commonly than replication analysis for X-chromosome
inactivation studies.






restriction fragment length polymorphism: (synonym: RFLP) Natural
(polymorphic) variation in DNA sequence between individuals which
abolishes or creates endonuclease restriction (cutting) sites,
resulting in DNA fragments of different lengths when DNA is digested
by an endonuclease






restriction fragment length polymorphism analysis: (synonyms: RFLP
analysis, RFLP testing) Fragment of DNA of predictable size resulting
from digestion (cutting) of a strand of DNA by a given restriction
enzyme. DNA sequence alterations (mutations) that destroy or create
the sites at which a restriction enzyme cuts DNA change the size (and
number) of DNA fragments resulting from digestion by a given
restriction enzyme.



Related Terms: DNA-based testing; Southern blot; Targeted mutation
analysis; molecular genetic testing; polymerase chain reaction (PCR)




restriction site: A sequence of DNA that is recognized by an
endonuclease (a protein that cuts DNA) as a site at which the DNA is
to be cut






risk assessment: Calculation of an individual's risk, employing
appropriate mathematical equations, of having inherited a certain
gene mutation, of developing a particular disorder, or of having a
child with a certain disorder based upon analysis of multiple factors
including family medical history and ethnic background






risk assessment modification: Alteration of the assessment of an
individual's genetic risk based upon previously unknown information
about the family history or upon the results of genetic testing;
depending on the nature of the new information, risk may be either
increased or decreased



Related Terms: background risk; population risk; risk assessment




RNA: (synonym: ribonucleic acid) The molecule synthesized from the
DNA template; contains the sugar ribose instead of deoxyribose, which
is present in DNA; three types of RNA exist, messenger RNA (mRNA),
transfer RNA (tRNA), and ribosomal RNA (rRNA)






Robertsonian translocation: The joining of two acrocentric
chromosomes at the centromeres with loss of their short arms to form
a single abnormal chromosome; in acrocentric chromosomes the
centromere is located near the end of the chromosome; acrocentric
chromosomes are the Y chromosome and chromosome numbers 13, 14, 15,
21, and 22



Related Terms: chromosome; deletion; derivative chromosome;
duplication; trisomy




screening: Testing designed to identify individuals in a given
population who are at higher risk of having or developing a
particular disorder, or having a gene mutation for a particular
disorder



Related Terms: diagnostic testing; prenatal diagnosis




second-degree relative: Any relative who is two meioses away from a
particular individual in a pedigree; a relative with whom one quarter
of an individual's genes is shared (i.e., grandparent, grandchild,
uncle, aunt, nephew, niece, half-sibling)






segregation: The separation of the homologous chromosomes and their
random distribution to the gametes at meiosis






sensitivity: The frequency with which a test yields a positive result
when the individual being tested is actually affected and/or has the
gene mutation in question






sequence alteration: (synonym: mutation) Any alteration in a gene
from its natural state; may be benign (commonly referred to as
a "polymorphism"), pathogenic, or of unknown significance






sequence analysis: (synonyms: gene sequencing, sequencing) Process by
which the nucleotide sequence is determined for a segment of DNA



Related Terms: DNA-based testing; PCR; Targeted mutation analysis;
direct DNA analysis; molecular genetic testing; mutation scanning




Sequence analysis of select exons: The process by which specific
exons are sequenced to identify sequence variations; used to expedite
analysis when certain exons are likely to contain the disease-causing
mutation(s)






simplex case: A single occurrence of a disorder in a family






single-stranded conformational polymorphism: (synonym: SSCP) A type
of mutation scanning; the identification of abnormally migrating
single-stranded DNA segments on gel electrophoresis



Related Terms: Analysis of the entire coding region: Mutation
scanning; Analysis of the entire coding region: Sequence analysis;
CSGE; DGGE; PCR; Targeted mutation analysis




sister chromatid exchange: (synonym: SCE) Exchange of genetic
material between the two chromatids of a single chromosome during the
cell division process; similar to crossing-over (recombination),
except that the exchange involves the two sister chromatids of a
single chromosome, whereas crossing-over refers to exchange of
genetic material between the two homologous chromosomes of a
chromosome pair






somatic mosaicism: Two or more genetic or cytogenetic cell lines
within the cells of the body (may or may not include the germline
cells)






Southern blot: (synonyms: Southern analysis, Southern blot analysis,
Southern blotting, Southern blotting analysis) Molecular genetic
testing technique used to detect differences in the lengths of DNA
fragments following restriction enzyme digestion (commonly known as
RFLPs: restriction fragment length polymorphisms). The lengths of
restriction fragments can vary due to mutations occurring between two
restriction sites (e.g., large insertions, large deletions, and
highly expanded trinucleotide repeats) or within a restriction site
(e.g., single base pair changes).



Related Terms: Targeted mutation analysis; direct DNA analysis;
molecular genetic testing; restriction fragment length polymorphism
analysis; restriction site




specificity: The frequency with which a test yields a negative result
when the individual being tested is actually unaffected and/or does
not have the gene mutation in question






splice-site mutation: A mutation that alters or abolishes the
specific sequence denoting the site at which the splicing of an
intron takes place. Such mutations result in one or more introns
remaining in the mature messenger RNA and can disrupt the generation
of the protein product






splicing: (synonym: splicing mutation) The process by which introns,
non-coding regions, are excised out of the primary messenger RNA
transcript and exons (i.e., coding regions) are joined together to
generate mature messenger RNA






sporadic: The chance occurrence of a disorder or abnormality that is
not likely to recur in a family



Related Terms: familial; isolated; recurrence risk; simplex case




SSCP: (synonym: single-stranded conformational polymorphism) A type
of mutation scanning; the identification of abnormally migrating
single-stranded DNA segments on gel electrophoresis



Related Terms: Analysis of the entire coding region: Mutation
scanning; Analysis of the entire coding region: Sequence analysis;
CSGE; DGGE; PCR; Targeted mutation analysis




subtelomeric FISH screen: Uses DNA probes that are specific for the
subtelomeric areas on the long arm and short arm of each chromosome,
allowing for the detection of cryptic and submicroscopic subtelomeric
deletions and translocations, a significant cause of moderate to
severe mental retardation






subtelomeric region: The chromosomal region just proximal to the
telomere (end of the chromosome) composed of highly polymorphic
repetitive DNA sequences that are typically situated adjacent to gene-
rich areas. Microdeletions and subtle rearrangements that disrupt
genes in the subtelomeric regions can cause mental retardation; use
of fluorescent in situ hybridization (FISH) to evaluate subtelomeric
regions is usually required for detection of these abnormalities.






supernumary chromosome: A small chromosome containing a centromere
occasionally seen in tissue culture, often in a mosaic state (present
in some cells but not in others). A marker chromosome may be of
little clinical significance or, if it contains material from one or
both arms of another chromosome, may create an imbalance for whatever
genes are present; assessment to establish the clinical significance,
particularly if found in a fetal karyotype, is often difficult.






susceptibility gene: A gene mutation that increases the likelihood
that an individual will develop a certain disease or disorder. When
such a mutation is inherited, development of symptoms is more likely
but not certain






Targeted mutation analysis: (synonym: allele-specific mutation
analysis) Testing for either (1) a nucleotide repeat expansion (e.g.,
the trinucleotide repeat expansion associated with Huntington
disease), or (2) one or more specific mutations (e.g., Glu6Val for
sickle cell anemia, a panel of mutations for cystic fibrosis).
Deletion/duplication analysis and family-specific mutation analysis
are excluded from this definition



Related Terms: Analysis of the entire coding region: Mutation
scanning; Analysis of the entire coding region: Sequence analysis;
Southern blot; allele-specific oligonucleotide testing; trinucleotide
repeat testing




telomere: The segment at the end of each chromosome arm which
consists of a series of repeated DNA sequences that regulate
chromosomal replication at each cell division. Some of the telomere
is lost each time a cell divides, and eventually, when the telomere
is gone, the cell dies.






trans configuration: (synonym: repulsion) Term which indicates that
an individual who is heterozygous at two neighboring loci has the two
mutations in question on each of the two homologous chromosomes



Related Terms: double heterozygote; pseudogene; variable expressivity




transcription: The process of synthesizing messenger RNA (mRNA) from
DNA






transcription factor: (synonym: zinc finger protein) A protein that
aids in the activation and regulation of transcription, in which
messenger RNA is synthesized from the DNA template; zinc finger
proteins are one type of transcription factor






translation: The process of synthesizing an amino acid sequence
(protein product) from the messenger RNA code






translocation: (synonym: chromosome rearrangement) A chromosome
alteration in which a whole chromosome or segment of a chromosome
becomes attached to or interchanged with another whole chromosome or
segment, the resulting hybrid segregating together at meiosis;
balanced translocations (in which there is no net loss or gain of
chromosome material) are usually not associated with phenotypic
abnormalities, although gene disruptions at the breakpoints of the
translocation can, in some cases, cause adverse effects, including
some known genetic disorders; unbalanced translocations (in which
there is loss or gain of chromosome material) nearly always yield an
abnormal phenotype






trinucleotide repeat: Sequences of three nucleotides repeated a
number of times in tandem within a gene. Normal polymorphic variation
in repeat number with no clinical significance commonly occurs
between individuals. Abnormally large alleles are classified in
increasing order of size as mutable normal alleles, reduced
penetrance alleles, and full penetrance alleles, respectively.



Related Terms: anticipation; trinucleotide repeat testing




trinucleotide repeat testing: Quantification of the number of
trinucleotide repeats (sets of three nucleotides of identical
sequence) in a segment of DNA



Related Terms: PCR; Southern blot; Targeted mutation analysis




trisomy: The presence of a single extra chromosome, yielding a total
of three chromosomes of that particular type instead of a pair.
Partial trisomy refers to the presence of an extra copy of a segment
of a chromosome.






trisomy rescue: The phenomenon in which a fertilized ovum initially
contains 47 chromosomes (i.e., is trisomic), but loses one of the
trisomic chromosomes in the process of cell division such that the
resulting daughter cells and their descendants contain 46
chromosomes, the normal number



Related Terms: aneuploidy; imprinting; post-zygotic event; trisomy;
uniparental disomy; uniparental disomy study




unaffected: An individual who does not manifest any symptoms of a
particular condition






unequal crossing over: Mispairing and exchange of DNA between
genetically similar, nonhomologous chromosome regions that results in
duplication or deletion of DNA in each daughter cell



Related Terms: crossing over; deletion; duplication; gene conversion;
homologous chromosomes; inversion; recombination




uniparental disomy: (synonym: UPD) The situation in which both
members of a chromosome pair or segments of a chromosome pair are
inherited from one parent and neither is inherited from the other
parent; uniparental disomy can result in an abnormal phenotype in
some cases



Related Terms: imprinting; parent-of-origin studies; trisomy rescue;
uniparental disomy study




uniparental disomy study: (synonyms: UPD analysis, UPD study) Testing
used to identify if specific chromosomes or chromosomal segments are
maternally or paternally derived; can aid in confirming the clinical
diagnosis of certain disorders for which UPD is a possible underlying
etiology



Related Terms: chromosome; imprinting; parent-of-origin studies;
uniparental disomy




variable expressivity: Variation in clinical features (type and
severity) of a genetic disorder between affected individuals, even
within the same family



Related Terms: allelic heterogeneity; interfamilial variability;
intrafamilial variability; locus heterogeneity; penetrance;
pleiotropy




variable number tandem repeats: (synonym: VNTR) Linear arrangement of
multiple copies of short repeated DNA sequences that vary in length
and are highly polymorphic, making them useful as markers in linkage
analysis






western blot: The separation of proteins on an electrophoretic gel
for identification by immunological techniques






wild-type allele: The normal, as opposed to the mutant, gene or
allele






X-chromosome inactivation: (synonym: lyonization) In females, the
phenomenon by which one X chromosome (either maternally or paternally
derived) is randomly inactivated in early embryonic cells, with fixed
inactivation in all descendant cells; first described by the
geneticist Mary Lyon



Related Terms: X-chromosome inactivation study; X-linked dominant; X-
linked recessive; lyonization; manifesting carrier; mosaicism




X-chromosome inactivation study: (synonym: XCI study) Molecular
genetic testing to assess the relative proportion of methylated
(inactive) X chromosomes to unmethylated (active) X chromosomes; used
to determine if X-chromosome inactivation is random or skewed



Related Terms: X-chromosome inactivation; X-linked recessive




X-linked dominant: Describes a dominant trait or disorder caused by a
mutation in a gene on the X chromosome. The phenotype is expressed in
heterozygous females as well as in hemizygous males (having only one
X chromosome); affected males tend to have a more severe phenotype
than affected females.



Related Terms: X-linked recessive; autosomal dominant; mode of
inheritance




X-linked lethal: A disorder caused by a dominant mutation in a gene
on the X chromosome that is observed almost exclusively in females
because it is almost always lethal in males who inherit the gene
mutation






X-linked recessive: A mode of inheritance in which a mutation in a
gene on the X chromosome causes the phenotype to be expressed in
males who are hemizygous for the gene mutation (i.e., they have only
one X chromosome) and in females who are homozygous for the gene
mutation (i.e., they have a copy of the gene mutation on each of
their two X chromosomes). Carrier females who have only one copy of
the mutation do not usually express the phenotype, although
differences in X-chromosome inactivation can lead to varying degrees
of clinical expression in carrier females



Related Terms: X-chromosome inactivation; X-linked dominant; mode of
inheritance; obligate carrier




zygosity testing: The process through which DNA sequences are
compared to assess whether individuals born from a multiple gestation
(twins, triplets, etc.) are monozygotic (identical) or dizygotic
(fraternal); often used to identify a suitable donor for organ
transplantation or to estimate disease susceptibility risk if one
sibling is affected









----------------------------------------------------------------------
----------


----------------------------------------------------------------------
----------
  Funding Support
National Library of Medicine, NIH
National Human Genome Research Institute, NIH
  Sponsoring Institution
University of Washington
Seattle, Washington













  In CMT-Support@yahoogroups.com, "Erin" <ekelly4@...> wrote:
>
> Jon.... I agree! The language (& concepts presented) of much of the
molecular genetic literature is hard to follow. I guess, like other
fields, the area has it's own collection of 'buzz' words.
>
> We have some very good articles in the 'File' section of our 'home
site'... diagrams of inheritance patterns, explanation of DNA, among
others. We have a dictionary of neurological terms related to CMT. A
good addition to our collection would be a molecular genetic
dictionary. Anyone aware of related materials??
>
> Thanks for reference to the database of inherited mutations - an
excellent tool for learning & clarifying some of what we read....
thinking through the quagmire & forming hypotheses. ;-)
>
>     ~Erin~
>
>
>   ----- Original Message -----
>   From: Jon leonard
>   To: CMT-Support@yahoogroups.com
>   Sent: Sunday, April 29, 2007 5:15 PM
>   Subject: [CMT-Support] Re: New to Group just found out!/
Genetics/Erin
>
>
>   Hi erin,
>
>   I think this is referring to the rare mutations of just pmp22
that can
>   cause CMT1a and HNPP, which are not the full duplication or
deletion.
>   I'm not sure though, sometimes the language used in these articles
>   makes my head spin...
>
>   I did hear of someone who had the usual hnpp del on one chromo17
and
>   their other chromo17 had a tiny deletion just in the pmp22 gene
>   segment, therefore not the full deletion. But effectively both
Chromos
>   had mutations on the usual region for cmt1a/hnpp.
>
>   There is a database online somewhere which has a list of the
various
>   HNPP (and CMT1A) causing mutations .
>
>   http://www.molgen.ua.ac.be/CMTMutations/
>
>   I'm not sure my model is actually correct, just how it would seem
to
>   pan out following the usual one from each parent model, with both
>   parents having CMT or HNPP.
>
>   Jon
>
>
>
> [Non-text portions of this message have been removed]
>

I thought Ernie did a very good job explaining the CMT vs. HNNP Karen & I have
been communicating for years; And I welcome her input for the group whenever the
need arises.

I'm glad some members have taken advantage of her offer of clarifying any
reaming questions that linger. Many of us aren't at the same level of
understanding at the same time. For example, I spent 3 full days of research &
reading, and still had questions.

When I was diagnosed at age 16, if the doctor told me I had CMT & HNNP.... I'd
probably not know the right questions to ask, never having heard of either - and
being zoned from the whole experience... I would think I had both 'sets of
letters'... both disorders. Maybe Shari believed the doctor without question??

She *still* could, though unlikely. Or maybe she needs to speak with her
doctors, clear up any misunderstandings & consult a genetic counselor if needed.

She found our group & that's a good thing. :)) I know all of us want to share
what knowledge we can, especially with all of our new members - feel free to
jump in!

     ~Erin~
   ----- Original Message -----
   From: sal2491
   To: CMT-Support@yahoogroups.com
   Sent: Monday, April 30, 2007 2:43 PM
   Subject: [CMT-Support] Re: Expert response re. HNNP & CMT/Erin


   I thought Ernie explained it very well in his post #59139 -- and that
   was according to Dr. Shy as it said.

   Sal




[Non-text portions of this message have been removed]

Sandy...this is *great* news and very elated for you! Definate moving
in a posaitive direction now :-)

The only insight I can share is reading recently at one of the many
SSDI sites,
them stating that if one has not worked the allocated 10 years to
receive what
  they call a full payment for SSDI, the top amount for 2007 for
anyone having
  worked under the 10 year period,is $623.00 per month...not much, but
beats a zero...:-)

Then depending when what date they use as the claim filed at...one
also receives
a lump sum of payments in one check. That, you will have to wait and
see what *THEIR*
claim date states.

I also filed 3 times over a 5 year period of time...yet they claimed
that the last filing was in May of 1988...and thus the check was for
a 6 month period...received in January of 1989.

As you, I was elated to have it come to an end...and allow life to
move on..lol  relate to the financial
difficulties it creates and pray that you aznd your family can and
will have the
strenght and courage to endue...it is one hard road for sure!

Then there was no internet & support groups...and though I was gonna
have a breakdown from the longgggg
drawn out ordeal...& the CMT progressed...on n on! :-( walla)
3rd claim was a charm
dispite the fact that I was hospitalized twice and in some pretty bad
shape.

Wishing you the best, and hoping your hubbies health has been able to
improve.
Bless your heart dear! Now for them to get it in gear n send you a
check...:-)

((((HUGS))))
from Dawn




Sandy wrote:
>
> Well after 2 VERY long years ...after being denied 2 times and
finally getting a hearing before and ALJ and having my hearing date
CANCELED 24 hrs before I was supposed to go to court..I got a letter
in the mail from SOC SEC and I recieved A FULLY FAVORABLE Decision
for SSDI !!!!!!!!!!!!!! I almost cant believe it !! But I am looking
at it so it must be TRUE ... I had applied back in Sept 2005 and they
decided I was disabled since June 2003. Not sure what that means I
know that was the last month I worked..I thought they only went back
as far as when you applied..but who am I to say? Even after going
thru all this I still dont know a darn thing about how this all
works.. All  I know is I got a favorable decision..I also want to
Thank all everyone here for supporting me thru all of this and ALL
the info I and advice I recieve from this group is what kept  and
still keeps me going and helped me trudge thru all this complicated
stuff.. You all cant imagine how much all the files and info and
personal advice helped me.  I am not sure what happens now ..but I
guess I sit back and wait till Soc sec tells me how much I will
recieve each month..LOL probably another 6 months they will send me
THAT letter..It has been so hard having to come home not feeling well
and then add that to being a finacial burden upon my husband who
suffered a stroke 8 weeks after I was finally diagnosed..Even though
he wasnt feeling well he went right back to work within 4 days after
and has to work so hard and yet without my income we are on the verge
of finacial ruin..I hope when I start recieving whatever soc sec says
I am entitiled to will help even just a little.. I am so happy to
have found this group and the support you all give..Hugs Sandy
>
> [Non-text portions of this message have been removed]
>

Good news for you Sandy after such a long time.

Sal


--- In CMT-Support@yahoogroups.com, "Sandy Chasse" <slchasse@...> wrote:
>
> Well after 2 VERY long years ...after being denied 2 times and
finally getting a hearing before and ALJ and having my hearing date
CANCELED 24 hrs before I was supposed to go to court..I got a letter
in the mail from SOC SEC and I recieved A FULLY FAVORABLE Decision for
SSDI !!!!!!!!!!!!!! I almost cant believe it !! But I am looking at it
so it must be TRUE ... I had applied back in Sept 2005 and they
decided I was disabled since June 2003. Not sure what that means I
know that was the last month I worked..I thought they only went back
as far as when you applied..but who am I to say? Even after going thru
all this I still dont know a darn thing about how this all works.. All
  I know is I got a favorable decision..I also want to Thank all
everyone here for supporting me thru all of this and ALL the info I
and advice I recieve from this group is what kept  and still keeps me
going and helped me trudge thru all this complicated stuff.. You all
cant imagine how much all the files and info and personal advice
helped me.  I am not sure what happens now ..but I guess I sit back
and wait till Soc sec tells me how much I will recieve each month..LOL
probably another 6 months they will send me THAT letter..It has been
so hard having to come home not feeling well and then add that to
being a finacial burden upon my husband who suffered a stroke 8 weeks
after I was finally diagnosed..Even though he wasnt feeling well he
went right back to work within 4 days after and has to work so hard
and yet without my income we are on the verge of finacial ruin..I hope
when I start recieving whatever soc sec says I am entitiled to will
help even just a little.. I am so happy to have found this group and
the support you all give..Hugs Sandy
>
> [Non-text portions of this message have been removed]
>

Well after 2 VERY long years ...after being denied 2 times and finally getting a
hearing before and ALJ and having my hearing date CANCELED 24 hrs before I was
supposed to go to court..I got a letter in the mail from SOC SEC and I recieved
A FULLY FAVORABLE Decision for SSDI !!!!!!!!!!!!!! I almost cant believe it !!
But I am looking at it so it must be TRUE ... I had applied back in Sept 2005
and they decided I was disabled since June 2003. Not sure what that means I know
that was the last month I worked..I thought they only went back as far as when
you applied..but who am I to say? Even after going thru all this I still dont
know a darn thing about how this all works.. All  I know is I got a favorable
decision..I also want to Thank all everyone here for supporting me thru all of
this and ALL the info I and advice I recieve from this group is what kept  and
still keeps me going and helped me trudge thru all this complicated stuff.. You
all cant imagine how much all the files and info and personal advice helped me. 
I am not sure what happens now ..but I guess I sit back and wait till Soc sec
tells me how much I will recieve each month..LOL probably another 6 months they
will send me THAT letter..It has been so hard having to come home not feeling
well and then add that to being a finacial burden upon my husband who suffered a
stroke 8 weeks after I was finally diagnosed..Even though he wasnt feeling well
he went right back to work within 4 days after and has to work so hard and yet
without my income we are on the verge of finacial ruin..I hope when I start
recieving whatever soc sec says I am entitiled to will help even just a little..
I am so happy to have found this group and the support you all give..Hugs Sandy

[Non-text portions of this message have been removed]

Jon.... I agree! The language (& concepts presented) of much of the molecular
genetic literature is hard to follow. I guess, like other fields, the area has
it's own collection of 'buzz' words.

We have some very good articles in the 'File' section of our 'home site'...
diagrams of inheritance patterns, explanation of DNA, among others. We have a
dictionary of neurological terms related to CMT. A good addition to our
collection would be a molecular genetic dictionary. Anyone aware of related
materials??

Thanks for reference to the database of inherited mutations - an excellent tool
for learning & clarifying some of what we read.... thinking through the quagmire
& forming hypotheses. ;-)

     ~Erin~


   ----- Original Message -----
   From: Jon leonard
   To: CMT-Support@yahoogroups.com
   Sent: Sunday, April 29, 2007 5:15 PM
   Subject: [CMT-Support] Re: New to Group just found out!/ Genetics/Erin


   Hi erin,

   I think this is referring to the rare mutations of just pmp22 that can
   cause CMT1a and HNPP, which are not the full duplication or deletion.
   I'm not sure though, sometimes the language used in these articles
   makes my head spin...

   I did hear of someone who had the usual hnpp del on one chromo17 and
   their other chromo17 had a tiny deletion just in the pmp22 gene
   segment, therefore not the full deletion. But effectively both Chromos
   had mutations on the usual region for cmt1a/hnpp.

   There is a database online somewhere which has a list of the various
   HNPP (and CMT1A) causing mutations .

   http://www.molgen.ua.ac.be/CMTMutations/

   I'm not sure my model is actually correct, just how it would seem to
   pan out following the usual one from each parent model, with both
   parents having CMT or HNPP.

   Jon



[Non-text portions of this message have been removed]

I thought Ernie explained it very well in his post #59139 -- and that
was according to Dr. Shy as it said.

Sal


--- In CMT-Support@yahoogroups.com, "Erin" <ekelly4@...> wrote:
>
> I asked Karen Krajewski, published geneticist on Dr. Shy's team,
about the possibility of having both HNNP & CMT. Please read her
response below.
>
> She offered to discuss further questions with anyone diagnosed with
both CMT1A & HNPP (as HNPP with other types of CMT are possible)....
or anyone confused by a diagnosis of HNPP with any other CMT type. If
you need her e-mail, contact me at ekelly4@...
>
> All of this is extremely complicated & works on an individual basis.
>     ~Erin~
>
>
> ----- Original Message -----
> To: Erin
> Sent: Sunday, April 29, 2007 1:17 PM
> Subject: RE: CMT Group question - Help please
>
>
> Hi Erin,
> There are a number of cases where we have seen a person who has two
types of CMT - meaning that they have mutations in two distinct genes
that each cause CMT (CMTX and CMT1B, for example). So, it is certainly
possible that a person could have the deletion of the PMP22 gene which
causes HNPP and a mutation in another CMT causing gene, like MPZ, Cx32
or whatever. What their symptoms clinically would look like would
depend on lots of factors, such as the specific mutation in the other
CMT causing gene. The only exception to all of this would be that it
is not really possible for a person to have HNPP and CMT1A - chances
are, the duplication and deletion would cancel each other out,
although I don't think that this has ever been reported in the
literature. All of the various possibilities can get rather confusing.
If there is a person who has a question about their specific
situation, feel free to tell them to email me.
>
> Take care,
> Karen
>
> ________________________________
>
> From: Erin [mailto:ekelly4@...]
> Sent: Sun 4/29/2007 12:59 PM
> To: Krajewski, Karen
> Subject: CMT Group question - Help please
>
>
> Hi Karen.... Hope all is well with you. :)
>
> We're having a bit of confusion here that could get out of hand. Is
it possible for a single person to have both HNPP and CMT?
>
> I consulted your chapter in Neurogenetics & various sites at
neuro.wustl.edu & posted my interpretation. Obviously my comprehension
in this area is limited.
>
> We'd like to give our members correct information from an expert.
Would you be so kind as to provide us with an answer?
>
> Much appreciation & thanks in advance,
>
>     Erin
> ekelly4@...
>
>
> [Non-text portions of this message have been removed]
>

Hi everyone, and welcome to all the new members that joined recently!

I have a question for you all.... has anyone ever been on WelChol to lower their
cholesterol?

My cardiologist is really pushing to get me on some kind of cholesterol-lowering
med.    My cholesterol was checked back in November and it was quite high.   : O
Total C -  282 mg/dl
Trig -       216 mg/dl
HDL -      44 mg/dl
LDL-C -   195 mg/dl

I realize their are very high, and it didn't make any sense to me at all because
I am only 36 and I have always tried to watch what I ate and eat good.    But,
the cardiologist and GP said that it's probably a genetic factor for me since
both my parents have high cholesterol.

Well, I have had numerous health issues that has really come out since October
and clear up until about a month or so ago, every test that was done never
showed what could possible be the cause.   Because not only was my cholesterol
high, but my blood sugars were elevating (I've been HYPOglycemic for almost 3
years now), my blood pressure was high (I've had HYPOtension for many, many
years), I was extremely nauseous most of the time every day and living on
Phenergan and calcium antacids, I had gained quite a bit of weight and although
couldn't eat very much because of the nausea I couldn't lose any, and my fatigue
suddenly took over again, even though I'm taking Provigil twice a day, I still
couldn't stay awake at certain time frames of day.

All of those things just became severe at one time.   It wasnt' making any
sense.   Finally my GI doctor did a blood test to check my cortisol levels.   I
was too low.   FINALLY we were getting somewhere!  Adrenal Insufficiency.   I
was referred to an endocrinologist, who ran an ACTH stimulating test.   The
results finally came back and even though my adrenal glands responded to the
ACTH injected in me, that only proved that my adrenal glands are not damaged.  
BUT.... my pituitary gland is apparently.

In 2004 I had gone through 4 rounds of Medrol Dose Paks in one year after I fell
and hurt my ankle that ended up needing surgery.   The repeated steroids
apparently "turned off" the ACTH production in my pituitary gland.

Anyway, (sorry, got a little off track!), I was sent to see a dietician early
this year because of my sugar levels and cholesterol levels, since we can't take
statins to lower it.    The cardiologist tried me on Zetia last year after we
first found out my cholesterol was high, but I had a LOT of abdominal pain in
the 2 weeks that I was on it where I have a lot of adhesions from surgery in
2002 where I had peritonitis, a temporary colostomy and then they put my colon
back together 6 months later.    As soon as they had me stop the Zetia, the pain
stopped too.

I've been on this low-fat, low-cholesterol, low-carb diet now since about
beginning of February and my cholesterol HAS come down some.   I'm pretty proud
of myself actually!   : )    Not to mention I've finally managed to lose about
35-40 pounds~!    This were my numbers when I had them checked on April 16:
Total-C -     245 mg/dl
Trig -          187 mg/dl
HDL -         38 mg/dl
LDL-C -      170 mg/dl
My numbers as a whole have come down, unfortunately my HDL did too.   : (

Well, adrenal insufficiency can actually cause high cholesterol, low sugar (and
highs), low blood pressure, and on and on.
I've been trying to read up on this WelChol and I even asked the pharmacist if
there is any chance of side effects like statins.    She looked and didn't see
anything but that's not saying that there isn't.    So I was wondering if anyone
else here has ever been on it??    If so, have you had any side effects?   And
last but not least --- since my numbers ARE coming down by diet alone, and since
this is probably, at least partially, connected to my adrenal insufficiency,
should I even consider starting to take this medicine??    Or should I maybe
wait until my appointment with my new endocrinologist that I'm going to see on
May 8th??

Hope I didn't drag everything out, LOL.... I have a habit of that lately,
getting side tracked.   LOL   : )

Sharon

I asked Karen Krajewski, published geneticist on Dr. Shy's team, about the
possibility of having both HNNP & CMT. Please read her response below.

She offered to discuss further questions with anyone diagnosed with both CMT1A &
HNPP (as HNPP with other types of CMT are possible).... or anyone confused by a
diagnosis of HNPP with any other CMT type. If you need her e-mail, contact me at
ekelly4@....

All of this is extremely complicated & works on an individual basis.
     ~Erin~


----- Original Message -----
To: Erin
Sent: Sunday, April 29, 2007 1:17 PM
Subject: RE: CMT Group question - Help please


Hi Erin,
There are a number of cases where we have seen a person who has two types of CMT
- meaning that they have mutations in two distinct genes that each cause CMT
(CMTX and CMT1B, for example). So, it is certainly possible that a person could
have the deletion of the PMP22 gene which causes HNPP and a mutation in another
CMT causing gene, like MPZ, Cx32 or whatever. What their symptoms clinically
would look like would depend on lots of factors, such as the specific mutation
in the other CMT causing gene. The only exception to all of this would be that
it is not really possible for a person to have HNPP and CMT1A - chances are, the
duplication and deletion would cancel each other out, although I don't think
that this has ever been reported in the literature. All of the various
possibilities can get rather confusing. If there is a person who has a question
about their specific situation, feel free to tell them to email me.

Take care,
Karen

________________________________

From: Erin [mailto:ekelly4@...]
Sent: Sun 4/29/2007 12:59 PM
To: Krajewski, Karen
Subject: CMT Group question - Help please


Hi Karen.... Hope all is well with you. :)

We're having a bit of confusion here that could get out of hand. Is it possible
for a single person to have both HNPP and CMT?

I consulted your chapter in Neurogenetics & various sites at neuro.wustl.edu &
posted my interpretation. Obviously my comprehension in this area is limited.

We'd like to give our members correct information from an expert. Would you be
so kind as to provide us with an answer?

Much appreciation & thanks in advance,

     Erin
ekelly4@...


[Non-text portions of this message have been removed]

Looks like Yahoo ate my earlier post... tryin' again....

----- Original Message -----
From: Erin
To: CMT-Support@yahoogroups.com
Sent: Sunday, April 29, 2007 2:55 PM
Subject: Expert response re. HNNP & CMT


I asked Karen Krajewski, published geneticist on Dr. Shy's team, about the
possibility of having both HNNP & CMT. Please read her response below.

She offered to discuss further questions with anyone diagnosed with both CMT1A &
HNPP (as HNPP with other types of CMT are possible).... or anyone confused by a
diagnosis of HNPP with any other CMT type. If you need her e-mail, contact me at
ekelly4@....

All of this is extremely complicated & works on an individual basis.
     ~Erin~


----- Original Message -----
To: Erin
Sent: Sunday, April 29, 2007 1:17 PM
Subject: RE: CMT Group question - Help please


Hi Erin,
There are a number of cases where we have seen a person who has two types of CMT
- meaning that they have mutations in two distinct genes that each cause CMT
(CMTX and CMT1B, for example). So, it is certainly possible that a person could
have the deletion of the PMP22 gene which causes HNPP and a mutation in another
CMT causing gene, like MPZ, Cx32 or whatever. What their symptoms clinically
would look like would depend on lots of factors, such as the specific mutation
in the other CMT causing gene. The only exception to all of this would be that
it is not really possible for a person to have HNPP and CMT1A - chances are, the
duplication and deletion would cancel each other out, although I don't think
that this has ever been reported in the literature. All of the various
possibilities can get rather confusing. If there is a person who has a question
about their specific situation, feel free to tell them to email me.

Take care,
Karen

________________________________

From: Erin [mailto:ekelly4@...]
Sent: Sun 4/29/2007 12:59 PM
To: Krajewski, Karen
Subject: CMT Group question - Help please


Hi Karen.... Hope all is well with you. :)

We're having a bit of confusion here that could get out of hand. Is it possible
for a single person to have both HNPP and CMT?

I consulted your chapter in Neurogenetics & various sites at neuro.wustl.edu &
posted my interpretation. Obviously my comprehension in this area is limited.

We'd like to give our members correct information from an expert. Would you be
so kind as to provide us with an answer?

Much appreciation & thanks in advance,

     Erin
ekelly4@...


[Non-text portions of this message have been removed]

Hi erin,

I think this is referring to the rare mutations of just pmp22 that can
cause CMT1a and HNPP, which are not the full duplication or deletion.
I'm not sure though, sometimes the language used in these articles
makes my head spin...

I did hear of someone who had the usual hnpp del on one chromo17 and
their other chromo17 had a tiny deletion just in the pmp22 gene
segment, therefore not the full deletion. But effectively both Chromos
had mutations on the usual region for cmt1a/hnpp.

There is a database online somewhere which has a list of the various
HNPP (and CMT1A) causing mutations .

http://www.molgen.ua.ac.be/CMTMutations/

I'm not sure my model is actually correct, just how it would seem to
pan out following the usual one from each parent model, with both
parents having CMT or HNPP.

Jon

Julie, my pleasure! as I do have them in my thoughts and prayers
often.

You are oh! so right, with any progress that researches make, is a
*possitive* and in my eyes view with so many children affected by
this Duchenes
it is another *positive* for the parents and children! :-)

Hum, I tried to find something that mentioned what the other MD
conditions this may also aid, yet had to stop for the evening!

So wonderful of you to share this and do have an awesome evening!

You made my day! :-)
Dawn




Julie wrote:
>
> Dawn -
>
> Thanks for helping me out here...I couldn ot remember who it was
> that has CMT and a child with CF - I knew someone would know that
it
> was a pertinent article for one of our members!
>
> You know...even though it's more for Duchenes and CF you can't help
> but keep praying that from this will come the rest of the cures!
>
> Have an awesome day!
> Julie
>
> --- In CMT-Support@yahoogroups.com, "spiritfree_dawn"
> <spiritfree_dawn@> wrote:
> >
> > Julie...this will be *GOOD NEWS* for Merrill who has CMT and baby
> > with CF..what a glimmer of HOPE this will be for his family.
> >
> > Thank you...Dawn
> >
> >
> >
> >
> >
> > Julie wrote:
> > >
> > > Hi Everyone!
> > >
> > > This was in the Orlando Sentinel today.  I tried to copy and
> paste
> > the
> > > direct page for you to view it online.  It speaks about PTC124
> > which is
> > > in development and testing stages for those with Duchenne MD
and
> > Cystic
> > > Fibrosis and apparently a host of other diseases.  I may be the
> > last to
> > > know about this...but thought it was interesting enough to
share
> > just
> > > in case....
> > >
> > >
> > > http://www.orlandosentinel.com/features/health/orl-
> > > md2807apr28,0,624322.story?coll=orl-health-headlines
> > >
> > > If this doesn't work, you can just type in orlandosentinel.com
> and
> > go
> > > to the health page.
> > >
> > > Happy Saturday to all!
> > >
> > > Julie
> > >
> >
>

Dawn -

Thanks for helping me out here...I couldn ot remember who it was
that has CMT and a child with CF - I knew someone would know that it
was a pertinent article for one of our members!

You know...even though it's more for Duchenes and CF you can't help
but keep praying that from this will come the rest of the cures!

Have an awesome day!
Julie

--- In CMT-Support@yahoogroups.com, "spiritfree_dawn"
<spiritfree_dawn@...> wrote:
>
> Julie...this will be *GOOD NEWS* for Merrill who has CMT and baby
> with CF..what a glimmer of HOPE this will be for his family.
>
> Thank you...Dawn
>
>
>
>
>
> Julie wrote:
> >
> > Hi Everyone!
> >
> > This was in the Orlando Sentinel today.  I tried to copy and
paste
> the
> > direct page for you to view it online.  It speaks about PTC124
> which is
> > in development and testing stages for those with Duchenne MD and
> Cystic
> > Fibrosis and apparently a host of other diseases.  I may be the
> last to
> > know about this...but thought it was interesting enough to share
> just
> > in case....
> >
> >
> > http://www.orlandosentinel.com/features/health/orl-
> > md2807apr28,0,624322.story?coll=orl-health-headlines
> >
> > If this doesn't work, you can just type in orlandosentinel.com
and
> go
> > to the health page.
> >
> > Happy Saturday to all!
> >
> > Julie
> >
>

Jon.... does this section of an article (see reference below text) come close to
explaining your model? Rare but possible? Then, of course there's the
combination of HNPP & any of the types of CMT that Becky posted.....

     ~Erin~
"Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with
liability to pressure palsies (HNPP) are dysmyelinating peripheral neuropathies
that result from an altered dosage of PMP22, which encodes peripheral myelin
protein. CMT1A results from heterozygous duplication of a 1.4-Mb segment that
includes the PMP22 gene, whereas HNPP results from a heterozygous deletion of
the same genomic interval. The rearrangements cause altered dosage of PMP22 that
subsequently results in neuropathy; overexpression causes CMT1A whereas
underexpression (i.e., haploinsufficiency) leads to HNPP. Experimental evidence
in support of the PMP22 dosage hypothesis is substantive (reviewed in [5,6]).
Suffice it to say that rare nonduplication CMT1A patients have been identified
with heterozygous apparent gain-of-function PMP22 point mutations, and rare
nondeletion HNPP patients have loss-of-function PMP22 mutations (nonsense or
frameshift alleles) consistent with haploinsufficiency [5]. Animal models that
overexpress PMP22 recapitulate the CMT1A phenotype, and the neuropathy can be
clinically, electrophysiologically, and neuropathologically corrected by
abrogation of the overexpression using epigenetic manipulation of PMP22 gene
expression [7,8]." ............

from:

Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed
Phenotypes
James R Lupski* and Pawel Stankiewicz
full text can be seen at:

http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1352149









   ----- Original Message -----
   From: Jon leonard
   To: CMT-Support@yahoogroups.com
   Sent: Saturday, April 28, 2007 7:32 PM
   Subject: [CMT-Support] Re: New to Group just found out!/ Genetics/Erin


   Hi all, I hope this helps a bit,

   In a clinical setting.
   I guess it's possible for CMT1a to have an HNPP-like
   presentation, just as it's possible for HNPP to look
   like CMT (in general), or for features of both
   diseases to be present.

   There are a number of HNPP mutations although the most
   common is the pmp22 deletion.

   In terms of molecular genetics with one parent HNPP(del)
   and the other CMT1a, I think it would look like this,

   e.g.

   father (HNPP)          -    mother (CMT1a)

   Fchr17del Fchr17ok     -    Mchr17dup Mchr17ok



   child can inherit

   Fchr17del Mchr17dup   = correct number pmp22 copies
                           but both chr17s mutated
                         = HNPP and CMT1a ???

   OR

   Fchr17del Mchr17ok    = only one pmp22 = HNPP

   OR

   Fchr17ok Mchr17dup    = three copies of pmp22 = CMT1a

   OR

   Fchr17ok Mchr17ok     = Two copies pmp22 no mutation
                         = no disease


   there will be a 25% chance of each happening

   In the first case although there will be a correct number
   of copies of PMP22, both will be on one chr17 the other chr17
   will not have any.
   On the face of it the gene dosage is correct, but I have a
   hunch this will not be a good combination as both chr17s
   are mutated. It will probably result in a neuropathy
   but of a different character to the those of the parents.


   Someone with CMT1a or HNPP could have other mutations
   in different regions on other or the same chromosome
   to give a rarer form of the other disease.
   Just as someone could have HNPP and Marfan's syndrome
   or
   CMT1a and Neurofibromatosis

   Jon



   Group Owners:   CMT-Support-owner@yahoogroups.com




   Yahoo! Groups Links





[Non-text portions of this message have been removed]

See Dawn, I do not have that same sensory nerve pain and have never
really experienced it, so I don't know what that's like but it sounds
terrible.  I am lucky I have not.  I only get the numbness sensation
that's not very painful.  My pain seems always related to
muscular/skeletal, maybe a result of being one of the 'unknown
variants'.  Ooooohhh, I'm an alien :O !!  I'm going to order that
cushion soon and I'll let ya know how its working out.

Melody

Julie...this will be *GOOD NEWS* for Merrill who has CMT and baby
with CF..what a glimmer of HOPE this will be for his family.

Thank you...Dawn





Julie wrote:
>
> Hi Everyone!
>
> This was in the Orlando Sentinel today.  I tried to copy and paste
the
> direct page for you to view it online.  It speaks about PTC124
which is
> in development and testing stages for those with Duchenne MD and
Cystic
> Fibrosis and apparently a host of other diseases.  I may be the
last to
> know about this...but thought it was interesting enough to share
just
> in case....
>
>
> http://www.orlandosentinel.com/features/health/orl-
> md2807apr28,0,624322.story?coll=orl-health-headlines
>
> If this doesn't work, you can just type in orlandosentinel.com and
go
> to the health page.
>
> Happy Saturday to all!
>
> Julie
>

Melody...thank you so much for the insight and input on this!

LOL...moons ago, I also tried being on my feet more, doing anything
to prevent having to sit,

at 1st merely sitting on my left hip, so to speak...then as the
plantar fascia set in
and became a real nightmare to stand let alone walk, even across the
room...yikes!

The planatar fascia was treated and neuralgia seems to come n go in
some long
extended periods, making more woes than one can discribe.

The updated MRI show not one at previously DX in 2004, before moving
west, :-(
now having 3 compressed discs that adds to the pot of soup!

After a chirpractor affiliated with the Pain management facility did
a few
adjustments, it di help tremendously with the scolosis...yah for that!

MDA was kind enough to give me a pressure cushion ROBO brand, which
helps,
although it is a bit thick and a tad to high for a chair.

The one you posted here looks good, and I do have to limit sitting at
the computer :-)

Oh! a poditrist suggested 2 topical creams for nerve pain, which I am
looking for now.

Hurts to have socks on and yes even a sheet is to much....another
yikes! My neurologist stated this is due to the sensory nerves, & not
much he could do to address it.

Hoping these creams do somethoing as they are $45...each...a tad
much, but if they work, I will post it.

One is Axsian and not recalling the 2nd one at the moment.

Have tried the med pak (predinisone) & with CMT must be cautious with
using it. It does help with the nerve inflamation while taking
it...then it returns...grr!

Will con tinue with trying the topicasl creams and see what happens.

Thank you and appreciate the input...not that I would want anyone to
experience this, but it a comfort to know, that I am not alone with
this experience.

Hugs,
Dawn









melody wrote:
>
> Dawn,
> When sitting, sometimes it happens and sometimes not....lately been
> occurring more frequently on my stronger side....odd it has not
> bothered me a lot before and it doesn't happen on my weaker side!
But
> since my pelvis has been readjusted which is wonderful, this has
been
> on and off.  Yes, I think it is due to flabby muscles or lack
of...my
> PT has mentioned that it is not good to sit for long periods for
> anyone, but of course, we do a lot of sitting.  They have also said
> that when I stand, my butt muscles are really contracting hard and
> that can also squeeze that big nerve, but standing doesn't bring it
> on.  Sometimes sitting, I can feel it coming on slowly and get up
and
> walk around, do laundry, dishes or something...sometimes within a
few
> hrs it will go away....sometimes not 'til the next day.  It's not
> painful for me but annoying, I just lose stability and have numbness
> to the foot....don't drive when this happens.  I do not know of
> anything that will take numbness away, do you?
>
> I believe I need to get a good cushion at my computer.  I have found
> this one touted to be good for sciatica sufferers....it would be
worth
> a try:
> http://www.backbenimble.com/new/pages/gelseat/index.htm
>
> I make sure my seat is tilted forward always and that my feet are
flat
> on the floor....I will try a piece of 2x4 to elevate my feet a bit
> more and see if that helps.
>
> My PT's asst said the human body was not designed to be seated for
> long periods...that so many back problems have become chronic due to
> our computer age.....the weight gain and lack of physical activity.
> We CMTers are certainly at a disadvantage here.
>
> Melody
>

According to Dr. Shy, HNPP is a form of CMT.

CMT 1A is caused by 3 total copies of PMP-22
HNPP is caused by 1 copy of PMP-22

It is impossible for one person to have CMT 1A and HNPP, with the current
knowledge of genetics.

It is possible for someone to have HNPP and another sub-type of CMT (other
than 1A), or two different sub-types of CMT in the same person.  It is
extremely rare. I believe we have only run across 3 or so case reports, in
all the years that I have been around here doing research as well as all the
moderators doing daily searches like they do.

Shari, there is no need for you to feel you have to be defensive here..  Sal
was just trying to help explain it a bit to you is all.  Knowing her like I
do, no offence was intended at all.  Most of us have been friends on this
group for many years and although disagreements come up now and then, we are
all still very good friends.  I look forward to getting to know you better
now that your a part of the CMT family.

One of the biggest advantages of a group like this is that it does help to
eliminate the feeling of being so alone.  Almost everyone here can relate to
that at one point in their lives.

Also, to be able to access the toxic medication list at the group, you need
to be signed into Yahoo first.  There is a LOT of information within the
LINKS and FILES sections... including some good stuff on HNPP.

You can also access the group by going to www.CMT-Support.com , if you wish.

I hope this helps some and again, it's nice to meet you Shari...

Ernie








----- Original Message -----
From: "shari" <seraphim_amon@...>
To: <CMT-Support@yahoogroups.com>
Sent: Saturday, April 28, 2007 1:00 PM
Subject: [CMT-Support] Thank you all


I guess hearing other stories from people does help... I dont feel as
alone anymore. I also think at this point, I am in denial. good example
I was cleaning the kitchen this morning and was feeling good all of a
sudden I couldnt feel part of my left leg, and a horrific pain overcame
me. I am fine now but I know tomorrow I am going to pay for it.

SAL I have to be defensive about your reply. Were you there in   the
doctors office? no. and I havent had all the tests yet for MS and
parkinsons. I am getting all of those done inbetween now and june.

I also live in beaverton, however the only medical care I get is thru
VA. I have a great neurologist, and he is working as fast as he can. I
have had the genetic testing......

thank you all for your input... I feel very welcome here.

ps
I cant connect to the list of "toxic" medicine.....



Group Owners:   CMT-Support-owner@yahoogroups.com




Yahoo! Groups Links

Thanks Becky.  I've had this in my bookmarks for quite some time.

Sal


--- In CMT-Support@yahoogroups.com, "~Becky M.~" <rmax@...> wrote:
>
> To see how many different genes are involved in the different types
of CMT.
>
> http://www.neuro.wustl.edu/neuromuscular/time/hmsn.html
>
>
>
> [Non-text portions of this message have been removed]
>

Thank you Jon.

Sal

--- In CMT-Support@yahoogroups.com, "Jon leonard" <mansel41@...> wrote:
>
> Hi all, I hope this helps a bit,
>
> In a clinical setting.
> I guess it's possible for CMT1a to have an HNPP-like
> presentation, just as it's possible for HNPP to look
> like CMT (in general), or for features of both
> diseases to be present.
>
> There are a number of HNPP mutations although the most
> common is the pmp22 deletion.
>
> In terms of molecular genetics with one parent HNPP(del)
> and the other CMT1a, I think it would look like this,
>
> e.g.
>
> father (HNPP)          -    mother (CMT1a)
>
> Fchr17del Fchr17ok     -    Mchr17dup Mchr17ok
>
>
>
> child can inherit
>
> Fchr17del Mchr17dup   = correct number pmp22 copies
>                         but both chr17s mutated
>                       = HNPP and CMT1a ???
>
> OR
>
> Fchr17del Mchr17ok    = only one pmp22 = HNPP
>
> OR
>
> Fchr17ok Mchr17dup    = three copies of pmp22 = CMT1a
>
> OR
>
> Fchr17ok Mchr17ok     = Two copies pmp22 no mutation
>                       = no disease
>
>
> there will be a 25% chance of each happening
>
> In the first case although there will be a correct number
> of copies of PMP22, both will be on one chr17 the other chr17
> will not have any.
> On the face of it the gene dosage is correct, but I have a
> hunch this will not be a good combination as both chr17s
> are mutated. It will probably result in a neuropathy
> but of a different character to the those of the parents.
>
>
> Someone with CMT1a or HNPP could have other mutations
> in different regions on other or the same chromosome
> to give a rarer form of the other disease.
> Just as someone could have HNPP and Marfan's syndrome
> or
> CMT1a and Neurofibromatosis
>
> Jon
>

Hi all, I hope this helps a bit,

In a clinical setting.
I guess it's possible for CMT1a to have an HNPP-like
presentation, just as it's possible for HNPP to look
like CMT (in general), or for features of both
diseases to be present.

There are a number of HNPP mutations although the most
common is the pmp22 deletion.

In terms of molecular genetics with one parent HNPP(del)
and the other CMT1a, I think it would look like this,

e.g.

father (HNPP)          -    mother (CMT1a)

Fchr17del Fchr17ok     -    Mchr17dup Mchr17ok



child can inherit

Fchr17del Mchr17dup   = correct number pmp22 copies
                         but both chr17s mutated
                       = HNPP and CMT1a ???

OR

Fchr17del Mchr17ok    = only one pmp22 = HNPP

OR

Fchr17ok Mchr17dup    = three copies of pmp22 = CMT1a

OR

Fchr17ok Mchr17ok     = Two copies pmp22 no mutation
                       = no disease


there will be a 25% chance of each happening

In the first case although there will be a correct number
of copies of PMP22, both will be on one chr17 the other chr17
will not have any.
On the face of it the gene dosage is correct, but I have a
hunch this will not be a good combination as both chr17s
are mutated. It will probably result in a neuropathy
but of a different character to the those of the parents.


Someone with CMT1a or HNPP could have other mutations
in different regions on other or the same chromosome
to give a rarer form of the other disease.
Just as someone could have HNPP and Marfan's syndrome
or
CMT1a and Neurofibromatosis

Jon

To see how many different genes are involved in the different types of CMT.

http://www.neuro.wustl.edu/neuromuscular/time/hmsn.html



[Non-text portions of this message have been removed]

Dawn,
When sitting, sometimes it happens and sometimes not....lately been
occurring more frequently on my stronger side....odd it has not
bothered me a lot before and it doesn't happen on my weaker side!  But
since my pelvis has been readjusted which is wonderful, this has been
on and off.  Yes, I think it is due to flabby muscles or lack of...my
PT has mentioned that it is not good to sit for long periods for
anyone, but of course, we do a lot of sitting.  They have also said
that when I stand, my butt muscles are really contracting hard and
that can also squeeze that big nerve, but standing doesn't bring it
on.  Sometimes sitting, I can feel it coming on slowly and get up and
walk around, do laundry, dishes or something...sometimes within a few
hrs it will go away....sometimes not 'til the next day.  It's not
painful for me but annoying, I just lose stability and have numbness
to the foot....don't drive when this happens.  I do not know of
anything that will take numbness away, do you?

I believe I need to get a good cushion at my computer.  I have found
this one touted to be good for sciatica sufferers....it would be worth
a try:
http://www.backbenimble.com/new/pages/gelseat/index.htm

I make sure my seat is tilted forward always and that my feet are flat
on the floor....I will try a piece of 2x4 to elevate my feet a bit
more and see if that helps.

My PT's asst said the human body was not designed to be seated for
long periods...that so many back problems have become chronic due to
our computer age.....the weight gain and lack of physical activity.
We CMTers are certainly at a disadvantage here.

Melody

It is interesting but we have to remember that CMT is an inherited
atrophy not a dystrophy such as MD. They are talking about Duchenne
Muscular Dystrophy in mice and also Cystic Fibrosis. I am sure that
when they come up with something for CMT, we will all be of the first
to learn about it thru the CMT sites.  Thank you for the article.  And
again, it is interesting.

Sal


--- In CMT-Support@yahoogroups.com, "phantomsec4" <phantomsec4@...> wrote:
>
> Hi Everyone!
>
> This was in the Orlando Sentinel today.  I tried to copy and paste the
> direct page for you to view it online.  It speaks about PTC124 which is
> in development and testing stages for those with Duchenne MD and Cystic
> Fibrosis and apparently a host of other diseases.  I may be the last to
> know about this...but thought it was interesting enough to share just
> in case....
>
>
> http://www.orlandosentinel.com/features/health/orl-
> md2807apr28,0,624322.story?coll=orl-health-headlines
>
> If this doesn't work, you can just type in orlandosentinel.com and go
> to the health page.
>
> Happy Saturday to all!
>
> Julie
>

Hi Everyone!

This was in the Orlando Sentinel today.  I tried to copy and paste the
direct page for you to view it online.  It speaks about PTC124 which is
in development and testing stages for those with Duchenne MD and Cystic
Fibrosis and apparently a host of other diseases.  I may be the last to
know about this...but thought it was interesting enough to share just
in case....


http://www.orlandosentinel.com/features/health/orl-
md2807apr28,0,624322.story?coll=orl-health-headlines

If this doesn't work, you can just type in orlandosentinel.com and go
to the health page.

Happy Saturday to all!

Julie

CMT: An OverviewCMT: An OverviewCharacteristics &
SymptomsCharacteristics & SymptomsDiagnosisDiagnosisTypes &
CausesTypes & CausesInheritance & GeneticsInheritance &
GeneticsTreatment & ManagementTreatment & ManagementMore About
HNPPMore About HNPPCMT & PainCMT & PainFor












  One of several pages that address the CMT/HNPP at CMTA and thought
this may be helpful to many here.

http://www.charcot-marie-tooth.org









   Why Does Peripheral Neuropathy Cause Pain?
Steven Scherer, M.D., Ph.D.
William N. Kelley Associate Professor of Neurology
The University of Pennsylvania Medical Center
Philadelphia, PA 19104-6077

(Editor's note: This information was presented as part of
Dr.Scherer's presentation at the CMTA patient/family conference at
the University of Pennsylvania Medical School.)

Peripheral nerves are a collection of nerve fibers that originate
from many different kinds of neurons. Motor fibers originate from
motor neurons that are located in the spinal cord. Sensory axons
originate from neurons that are located outside the spinal cord in
large clusters called ganglia. The ganglia that contain the sensory
neurons for the leg are located in the low back region (called the
lumbar and sacral levels); those for the arm are located in the neck
(called the cervical region). Each of these ganglia contains many
thousands of sensory neurons.

Every sensory neuron has two ends. One end is connected to a tissue
in the body (a piece of skin, muscle, bone, etc.), and the other end
is connected to the spinal cord. Under normal circumstances,
sensations are generated only upon stimulation of the end of the
nerve fiber that is in the body. Then sensory nerve fibers relay this
information to the spinal cord, and cells in the spinal cord, in
turn, relay this information to the brain. There are many kinds of
sensory neurons.

This is why we can perceive so many different sensations. All of us
can appreciate many of these sensations, such as heat, cold, light
touch, pin prick, vibration, and movements of the hairs on our skin.
Other sensations are less obvious, such as our ability to determine
movements of our arms and legs. Each kind of sensation, including
pain, is conveyed to the spinal cord by certain kinds of sensory
neurons.

So what does this have to do with pain? It is likely that some kinds
of neuropathy damage the sensory fibers that convey pain, causing
them to be hyperactive even in the absence of stimulation. In other
words, damaged "hyperactive pain fibers" trick the brain into
perceiving a painful stimulus even though none is present. The
hyperactive fibers may not even be properly connected to their
tissue, thereby accounting for why people can experience pain in
their numb feet or legs.

It should be clear that not all pain is caused by neuropathy, even in
people who have peripheral neuropathy. The pain of arthritis and
headache, for example, are conveyed, but are not caused, by sensory
fibers. Even the pain caused by one of the foot deformities caused by
neuropathies is not caused by damaged sensory fibers; the sensory
fibers are merely conveying the information to the spinal cord.
Conversely, not all people who have peripheral neuropathy have
painful symptoms. Pain is a common symptom in some kinds of
neuropathy, such as diabetic neuropathy, in which small sensory
fibers may be disproportionately affected. Among people who have
inherited neuropathy, pain is much less frequent in the demyelinating
forms than in the axonal forms affecting small sensory fibers.

The principles of treating painful peripheral neuropathies.

If neuropathy causes pain that is diminishing the quality of life,
then this symptom should be treated. In my view, to manage pain
effectively, there has to be a partnership between the patient and
the physician. The patient needs to understand their pain—when it
occurs, how well the drugs work, the side effects of the medications
(particularly how troubling they are)—and communicate these things to
the physician. The physician needs to know the medications and the
relevant information about them—their duration, common side effects,
potential interactions with other drugs, and whether a patient has
other complicating medical problems—and communicate these things to
the patient.

The goal is maximize the patient's quality of life. In practical
terms, the patient should take the amount of medication that
effectively manages the pain, but that does not cause unacceptable
side effects. In the ideal case, the patient would be pain-free
without any side effects. In the worst case, the patient has
intolerable side effects at a dose that produces no pain relief
whatsoever. In the typical case, however, there is a dose of a
medication that provides some pain relief but that also causes some
side effects. It should be clear that only the patient can know
whether a medication works and whether it has acceptable side effects.



Medications for treating painful peripheral neurpathies.

Many medications have been reported to work for painful peripheral
neuropathies. A few have been studied in rigorously conducted
clinical trials, such as desipramine for painful diabetic neuropathy.
Several more have been reported to be effective for painful
neuropathy, including other kinds of pain syndromes such as post-
herpetic neuralgia or trigeminal neuralgia. I am not aware of any
studies that have specifically examined treating pain in inherited
neuropathies. Regardless of the medication, the logic is the same:

Introduce one medication at a time. Changing the doses of two
medications simultaneously makes it difficult to determine which
medication is responsible for any given effect (especially a side
effect).
Use a gradually escalating dose of one medication until either good
pain relief is obtained or intolerable side effects occur. This is
the key concept; too often I have seen patients who have been taking
potentially effective medications but at dose that neither help the
pain nor cause significant side effects.
If one medication fails, try another one.


The medications that work for the pain of neuropathy fall into a few
groups:

Tricyclics (e.g, amitriptyline/elavil, nortriptyline,
desipramine/norpramin). These drugs were originally used as anti-
depressants, typically at much higher doses than are used for
treating painful neuropathies. They probably work by blocking
norepinephrine receptors. They are usually taken once a day, an hour
or so before sleep, as they are slowly metabolized (thus taken
once/day) and often cause some degree of drowsiness/sedation (and
thus are taken before sleep). The drowsiness is often a useful side
effect when pain interferes with sleep. One typically starts with a
low dose (25 mg or even 10 mg) and "builds up" the dose until either
a good effect has been achieved or there are intolerable side effects
(typically 50-100 mg). Beside drowsiness, a dry mouth and cognitive
side effects are common (and there are other side effects, too). It
is important to know that the tricyclics typically take 2-4 weeks to
reach their full effectiveness against pain, and that the severity of
the side effects often diminishes over time.

Neurontin (gabapentin). This medication is not approved for the
treatment of chronic pain, but is probably more widely used for this
reason than for the treatment of its approved indication, epilepsy.
It was designed to be long-lasting mimic of a neurotransmitter, GABA.
Neurontin comes in 100, 200, and 300 mg capsules; these are taken
every 6-8 hours (the dose to be determined by its efficacy and side
effects!). Cognitive changes are the most common side effect. In my
experience, Neurontin works less reliably than do the tricyclics.

Narcotics. The keys for using narcotics are matching the duration of
action to the duration of pain, and letting the patient figure out
the dose that provides adequate pain relief with acceptable side
effects. There are a few kinds of long acting narcotics:

MS Contin (the active ingredient is morphine; 15, 30, 60, 100 mg
tablets); works for about 12 hours.
Oxycontin (the active ingredient is oxycodone; 10, 20, 40 mg
tablets); works for about 12 hours.
Duragesic patches (the active ingredient is fentanyl; comes in
10cm2/2.5 mg, 20cm2/5.0 mg, 30cm2/7.5 mg, and 40cm2/10 mg size
patches); works for 2-3 days/patch.
There are many kinds of short acting ones. (I often use the regular
form of oxycodone, which lasts 3-4 hours.) I typically ask patients
to use both long acting narcotics on a regular schedule (usually
every 8 hours) to treat the constant pain, and use a short-acting one
for "break-through" pain (the episodes of pain that are not "covered"
by the long-acting narcotic. When pain is worse during a particular
time of the day (late afternoon to early evening), I recommend using
oxycodone (for 2-3 hours of relief) or oxycontin/MS contin (for 8
hours of relief), depending on the duration of that period. Like
tricylics, narcotics cause drowsiness, and have other side effects,
too (constipation, for one). Tricyclics and narcotics often work well
together for pain relief (tricyclics "potentiate" the pain relief of
narcotics).

Tegretol (carbamazepine). This medication is not approved for the
treatment of chronic pain, but is probably more widely used for this
reason than for the treatment of its approved indication, epilepsy.
Tegretol works by blocking voltage-gated sodium channels. In my
experience, Tegretol works only sometimes. Tegretol comes in 100 and
200 mg tablets that are taken every 6 hours. A sustained released
form (Tegretol XR) comes in 100, 200, and 400 mg tablets; these are
taken every 12 hours.

Anti-inflammatories. There are basically two kinds of anti-
inflammatory medications—corticosteroids (these are different than
the performance-enhancing "steroids" used by atheletes) and non-
steroidal anti-inflammatory drugs (NSAIDs).

Prednisone, prednisolone, and decadron are examples of
corticosteriods. These drugs are used for the long-term treatment of
some chronic inflammatory conditions, but are more commonly used for
short-term conditions. Corticosteroids should not be used to treat
painful neuropathies, unless the underlying cause of the neuropathy
is an inflammatory condition.

There are many NSAIDs, including the following:

Aspirin, including Ecotrin. Aspirin or other salicylates are an
active ingredient in many combination medications, including
Excedrin, Disalcid.
There are many newer NSAIDs - Anaprox/naproxen, Clinoril, Daypro,
Feldene, Indocin/indomethacin, Lodine, Motrin/ibuprofen, Naprosyn,
Orudis, Relafen, Tolectin, Toradol/ketoprofen, Voltaren.
The newest NSAIDs are the COX1 inhibitors. (Vioxx has been removed
from the market, however, and Celebrex has a number of potentially
harmful side effects.)
Aspirin, and NSAIDs are not effective for the treatment of the pain
of neuropathy, but they do work on radicular pain (caused by "pinched
nerves") as well as arthritis, tendonitis, and a host of other
conditions.




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