[PAGID] CGD new mutation?

[Nacho Gonzalez]

 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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