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

[Rosenzweig, Sergio (NIH/CC/DLM) [E]]

Thanks Dylan. No family history of STAT1 GOF (genetic screen neg) or ALS/MND. The WES was unfiltered but would certainly miss hexanucleotide expansions (we don't regularly do CNV together with WES)
Sergio

From: Dylan Mordaunt <d.a.mordaunt at gmail.com<mailto:d.a.mordaunt at gmail.com>>
Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Date: Wednesday, January 14, 2015 7:13 PM
To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Subject: Re: [cis-pidd] STAT1 GOF unfrequent manifestation

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<mailto:d.a.mordaunt at gmail.com>

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