[PAGID] CGD new mutation?

[Torgerson, Troy]

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 doesn´t appear in the databases

Does anyone know if it has been already described? 

 

Many thanks

 

Luis Ignacio Gonzalez Granado. Inmunoodeficiencies. Hospital 12 octubre.

CONFIDENTIALITY NOTICE:  This e-mail message, including any attachments, is for the sole use of the intended recipient(s) and may contain confidential and privileged information protected by law.  Any unauthorized review, use, disclosure or distribution is prohibited.  If you are not the intended recipient, please contact the sender by reply e-mail and destroy all copies of the original message.
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20090907/c5870be2/attachment-0001.htm>