Recurrent V75M mutation within the Wiskott-Aldrich syndrome protein: description of a homozygous female patient.
2005
: The
Wiskott–Aldrich syndromeis a rare
genetic disorderdue to mutations in the WAS gene situated on chromosome X. It is comprised of microthrombocytopenia, eczema and immunodeficiency. However, the phenotypical presentation may vary as to the number and intensity of its manifestations. A milder form of
Wiskott–Aldrich syndromeis known as the
X-linked thrombocytopenia. We independently found eight individual or familial cases with the V75M substitution (9.76%). This high incidence was partly accounted for by the fact that three cases turned out to be related. The V75M mutation is recurrent, however, due to a CpG island. A genuine homozygous female patient was found. She showed microthrombocytopenia and infections to the same degree as her hemizygous father and brother. The WAS protein was decreased in a comparable fashion in the
hemizygotesand the homozygote as well. Its amount was about 10% and 15% of normal in platelets and mononucleated
white cells, respectively. In all patients was the picture consistent with XLT.
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