[PAGID] CGD new mutation?

[Jack Bleesing]

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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