[CIS-PAGID] Hermansky Pudlak like syndrome

[Ciaccio, Christina, E]

Thank you so much.  I'm sorry for being unclear.  The group believes they have identified a new mutation that is responsible for the disease described.  Hermansky-Pudlak, Chediak-Higashi, Griscelli, and endosomal-adaptor protein p14 deficiency were all considered.  Rather then send further individual genetic tests, the group used whole exome sequencing to identify the new mutation.  

They would like to report their findings but would prefer to find at least one other individual with a similar phenotype and no genetic diagnosis to look for the same mutation (and report in the same paper).  I was reaching out to see if anyone cared for a similar patient with no genetic diagnosis that would be willing to provide a sample for genetic testing looking for the same mutation.

c

Christina Ciaccio, M.D.
Assistant Professor, Allergy/Immunology
University of Missouri-Kansas City
Children's Mercy Hospital and Truman Medical Center
816-234-3097 (phone)
816-346-1301 (fax)

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho Gonzalez
Sent: Tuesday, March 29, 2011 2:57 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] Hermansky Pudlak like syndrome

I agree with Kate,does the patient has bone abnormalities?
Luis I. Gonzalez Granado
Pediatrics.Hospital 12 octubre.Madrid.Spain

2011/3/29, Ciaccio, Christina, E <ceciaccio at cmh.edu>:

> All-

>

> I'm working with a group that has identified a relevant mutation in a

> 17-year old girl with features suggestive of Hermansky-Pudlak syndrome or

> Griscelli syndrome but lacking mutations in AP3B1 and RAB27A.

>

> Her findings include recurrent cutaneous infections, oculocutaneous

> albinism, nystagmus, leukopenia, thrombocytopenia as well as decreased NK

> and neutrophil fxn.

>

> The group is looking for any subjects with a similar phenotype for genetic

> analysis of the same gene.  Please contact me if you know of any potential

> candidates.

>

> Thanks

> Chrissy

>

> Christina Ciaccio, M.D.

> Assistant Professor, Allergy/Immunology

> University of Missouri-Kansas City

> Children's Mercy Hospital and Truman Medical Center

> 816-234-3097 (phone)

> 816-346-1301 (fax)

>


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Enviado desde mi dispositivo móvil