[PAGID] CGD new mutation?

[Ashish Kumar]

Chorionic villus sampling to assess the sex of the fetus and PCR to
detect the mutation is the best bet. If positive and male, based on the
info we have, we have to assume the mutation is real as Troy said. What
to do with the information is up to the treating physician and the
family (assuming they don't live in Guatemala). See
http://www.ncbi.nlm.nih.gov/pubmed/1438069?dopt=Abstract


Ashish


Ashish Kumar, MD, PhD
Assistant Professor
Cincinnati Children's Hospital Medical Center
Cincinnati, OH
 



>>> "Prof. Dr. Antonio Condino Neto" <condino at icb.usp.br> 9/8/2009

10:58 AM >>>
The problem is to decide if the fetus has or not CGD and if they will 

interrupt pregnancy before 20 weeks.
-- 
Antonio Condino-Neto
Professor, Department of Immunology
Institute of Biomedical Sciences, University of São Paulo
1730 Lineu Prestes Avenue, São Paulo - SP. ZIP 05508-000. Brazil
Tel (55) (11) 3091-7387 / Fax (55) (11) 3091-7224



Citando Jack Bleesing <Jack.Bleesing at cchmc.org>:


> I see.

>

> If the mother is a carrier, seeing 2 populations would provide the

> answer, perhaps?

>

> J

>

>

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

> Jack J.H. Bleesing, M.D., Ph.D.

> Associate Professor of Pediatrics

> Cincinnati Children's Hospital Medical Center

> Division of Bone Marrow Transplantation and Immune Deficiency

> 3333 Burnet Avenue, MLC 7015

> Cincinnati, OH 45229

> 513-636-4266 (phone)

> 513-636-3549 (fax)

>

>

>>>> "Prof. Dr. Antonio Condino Neto" <condino at icb.usp.br> 9/8/2009

9:55

> AM >>>

> The problem is to collect fetal blood at that age

> --

> Antonio Condino-Neto

> Professor, Department of Immunology

> Institute of Biomedical Sciences, University of São Paulo

> 1730 Lineu Prestes Avenue, São Paulo - SP. ZIP 05508-000. Brazil

> Tel (55) (11) 3091-7387 / Fax (55) (11) 3091-7224

>

>

>

> Citando Jack Bleesing <Jack.Bleesing at cchmc.org>:

>

>> Wouldn't a DHR assay be informative as well?

>>

>> Jack Bleesing

>>

>>

>

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

>> Jack J.H. Bleesing, M.D., Ph.D.

>> Associate Professor of Pediatrics

>> Cincinnati Children's Hospital Medical Center

>> Division of Bone Marrow Transplantation and Immune Deficiency

>> 3333 Burnet Avenue, MLC 7015

>> Cincinnati, OH 45229

>> 513-636-4266 (phone)

>> 513-636-3549 (fax)

>>

>>

>>>>> "Torgerson, Troy" <troy.torgerson at seattlechildrens.org> 9/7/2009

>> 2:02 PM >>>

>> Nacho,

>>

>>

>>

>> The +4 position downstream of most exons (considered the 5' splice

> site

>> since it is at the 5' end of the intron) is quite highly conserved

> and

>> is usually an A.

>>

>> See the figure at this link which is from a 2004 Nature Genetics

> review

>> showing in a nice graphical format what the typical 5' splice site

>> consensus is:

>>

>>

>>

>> http://www.nature.com/nrg/journal/v5/n10/fig_tab/nrg1451_F1.html 

>>

>>

>>

>> Nature Reviews Genetics 5, 773-782 (October 2004)

>>

>>

>>

>> Unless you can quickly sequence the mRNA, I think you have to

assume

>> that this mutation in the 5' splice site causes a splicing defect

> and

>> causes disease.

>>

>>

>>

>> Best,

>>

>> TT

>>

>>

>>

>>

>>

>> Troy R. Torgerson MD PhD

>>

>> Assistant Professor, Pediatric Immunology/Rheumatology

>>

>> Co-Director Immunodeficiency Molecular Diagnostics Laboratory

>>

>> Center for Immunity and Immunotherapies (CIIT)

>>

>> University of Washington and Seattle Children's Research Institute

>>

>> 1900 9th Avenue

>>

>> Seattle, WA  98101-1304

>>

>>

>>

>> Tel (206) 987-7450

>>

>> Fax (206) 987-7310

>>

>>

>>

>> From: pagid-bounces at list.clinimmsoc.org 

>> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho

>> Gonzalez

>> Sent: Monday, September 07, 2009 1:56 AM

>> To: pagid at list.clinimmsoc.org 

>> Subject: [PAGID] CGD new mutation?

>>

>>

>>

>> Good morning, we have found a mutation in CYBB g.IVS6(+4) and it

>> doesńt appear in the databases

>>

>> Does anyone know if it has been already described?

>>

>>

>>

>> Many thanks

>>

>>

>>

>> Luis Ignacio Gonzalez Granado. Inmunoodeficiencies. Hospital 12

>> octubre.

>>

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