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Recurrent V75M mutation within the Wiskott–Aldrich syndrome protein: description of a homozygous female patient
Author(s) -
Proust Alexis,
Guillet Benoît,
Pellier Isabelle,
Rachieru Petronela,
Hoarau Cyrille,
Claeyssens Ségolène,
Léonard Claude,
Charrier Sabine,
Vainchenker William,
Tchernia Gil,
Delaunay Jean
Publication year - 2005
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2005.00415.x
Subject(s) - wiskott–aldrich syndrome protein , wiskott–aldrich syndrome , mutation , immunodeficiency , phenotype , genetic disorder , incidence (geometry) , biology , gene , genetics , medicine , immunology , immune system , cell , actin cytoskeleton , physics , cytoskeleton , optics
The Wiskott–Aldrich syndrome is a rare genetic disorder due 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 syndrome is 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 hemizygotes and 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.