[PAGID] CGD new mutation?

[Chinen, Javier]

Hi Nacho,
What is the nt change?
We have an X-linked CGD (heritance by pedigree) with a deletion of 4 nucleotides (4-7) in that position. No mutations on NCF1 or NCF2.
Javier

________________________________
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho Gonzalez
Sent: Monday, September 07, 2009 9:03 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [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?

I would like to clarify the question. two months ago we identified a child with CGD. The mother is now pregnant of 14 weeks. This mutation is for us unknown and in spain the legal week to interrupt the pregnancy is 20. Now we are receiving DNA from two brothers of the supposed carrier to test quickly the role of the change. If this is does not clarify the case, we should work on mRNA and this would take to us too much time than the pregnant perhaps has

Thanks again

Luis Ignacio Gonzalez Granado. Inmunoodeficiencies. Hospital 12 octubre.


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