Hi Jonathan,

There are several research papers on Sotos out there.  Many of the children on the other Sotos site have been diagnosed by two of the experts on Sotos Syndrome, Dr. Bradley Schaefer U of NE and Dr. Trevor Cole (from the UK).  It is said that about 70% of patients with a clinical diagnosis of Sotos Syndrome actually have a mutation or deletion of the NSD1 gene.  There is also another disorder (can’t recall the name of it off the top of my head) where the patients have a mutation or deletion of NSD1, BUT a clinical dx of that disorder and not Sotos.

Discussions about NSD1 are frequent on the other group.  This particular group is “quiet” for the most part. 

Pam

-----Original Message-----
From: UndiagnosedOvergrowthSyndromes@yahoogroups.com [mailto:UndiagnosedOvergrowthSyndromes@yahoogroups.com] On Behalf Of jeweber56
Sent: Friday, April 22, 2005 6:57 PM
To: UndiagnosedOvergrowthSyndromes@yahoogroups.com
Subject: [UndiagnosedOvergrowthSyndromes] Soto Syndrome Literature Review

Soto Syndrome Literature Review

In the Nature Genetics article titled "Haploinsufficiency of NSD1
causes Sotos syndrome," that was published online 18 March 2002, I
became a little disturbed while reading the abstract. In the last
sentence of the abstract the words "the cause" was used. The reason
why I have an issue with those words is that there is a possibility
that there are more genes that could/might cause Soto syndrome. The
words that I illustrated would be read better by the words "a
cause." 

I hypothesize that this neurological disorder that results from an
overgrowth during the prenatal stage of development and leads to
adult growth, leads me to think that there might be numerous genes
that could be causes for this disorder. The researchers in this
article constructed a BAC/PAC cosmid contig that allowed them to
find a breakpoint that had a similar genomic sequence to the mouse
Nsd1. From the evidence that is provided in the article, the Nsd1
sounds suffice to be a big player for the cause of this disorder.
However, there is a lot of research that still needs to be done to
better understand the role that Nsd1 plays in the cause of this
disorder. It is known that the Nsd1 may (which means the function
and role that Nsda1 has is in the early stages of research) interact
as a nuclear receptor co-repressor and co-activator. The reason why
Nsd1 may act as a nuclear receptor co-repressor and co-activator is
because it interacts with the nuclear hormone receptors (these
hormone receptors have major roles during development). The authors
in this paper stated that Nsd1 acts as a co-repressor because of its
role with genes that have roles with promoting growth.

If anyone wants to read some literature on Soto syndrome can go to
the Online Mendelian Inheritance in Man website and type in "Sotos
Syndrome" and click on the 5th link.

Interesting facts about Sotos syndrome:

There have been 38 reported intragenic mutations in patients
diagnosed with Sotos syndrome. There are some apparent differences
between persons with Sotos syndrome in Japan and UK. In the UK, 6
percent of patients have a deletion. In Japan, about 50 percent of
patients diagnosed with Sotos syndrome have the common
microdeletion.

There is still a lot of research that needs to be done.

I will make another posting at a later date. What I will discuss in
the next posting I'm not sure yet. However, if anyone wants me to
discuss any topic related to Sotos syndrome I will be happy to do
so. If anyone has questions feel free to share them.

Jonathon