[CIS PIDD] [cis-pidd] STAT1 GOF unfrequent manifestation

[Dylan Mordaunt]

Dear Sergio,

My initial thought is that if your patient's neurological disorder is
separate to *STAT1* and due to a known gene, than it would be worth
arranging expansion testing of *C9orf72*- this wouldn't be picked by
WES/WGS as it is a hexanucleotide expansion and could explain your
patient's features. Is there a family history of ALS/MND or dementia?

Was your WES unfiltered- i.e. did they look at all genes or just OMIM genes?

There are limitations to the Protein Atlas data but *STAT1* RNA is
expressed to a limited extent in glial cells but no protein expression was
detected-
http://www.proteinatlas.org/ENSG00000115415-STAT1/tissue/cerebral+cortex.

Kind regards,

Dylan
South Australian Clinical Genetics Service

Dylan Mordaunt
Mobile: + 61 468 516 283
Email: d.a.mordaunt at gmail.com

On 15 January 2015 at 09:59, Rosenzweig, Sergio (NIH/CC/DLM) [E] <
srosenzweig at cc.nih.gov> wrote:

> Dear All,
> I've been following a young guy with STAT1 GOF mutation for the last 4y
> (currently 26yo). He have had all the common (CMC, histoplasmosis,
> mycobacteria, virus –shingles x3-) as well as the uncommon (neutropenia,
> diabetes) manifestations described  to be associated with this disease. All
> these problems are under pretty good control, but on top of them and for
> the last 10+ years he has what our neurologists defined as bibrachial
> amyotrophic diplegia/Hirayama disease, a poorly understood slowly
> progressive motoneuron degenerative disease that is making his life  really
> miserable. No viruses, autoimmune or vascular defects were found in this
> this kid (CNS/CSF).
> Does anybody have seen anything similar in STAT1 GOF (our pt was
> whole-exomed and nothing else was found)?
> Thanks in advance for your help,
> Sergio
>
> Sergio D. Rosenzweig, MD, PhD
> NIH
>
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