[PAGID] CGD new mutation?

[Prof. Dr. Antonio Condino Neto]

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.

>>

>> 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.

>>

>

>

>

> ----------------------------------------------------------------

> This message was sent using IMP, the Internet Messaging Program.

>

>




----------------------------------------------------------------
This message was sent using IMP, the Internet Messaging Program.