title: Recurrent V75M mutation within the Wiskott-Aldrich syndrome protein: description of a homozygous female patient.
abstract: 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.
authors.affiliation: Service d'Hématologie, d'Immunologie et de Cytogénétique, Hôpital de Bicêtre, AP-HP, Faculte de Medecine Paris-Sud, 78 rue du Général Leclerc, 94275 Le Kremlin-Bicêtre, France.
authors.forename: Alexis
authors.initials: A
authors.lastname: Proust
authors.forename: Benoît
authors.initials: B
authors.lastname: Guillet
authors.forename: Isabelle
authors.initials: I
authors.lastname: Pellier
authors.forename: Petronela
authors.initials: P
authors.lastname: Rachieru
authors.forename: Cyrille
authors.initials: C
authors.lastname: Hoarau
authors.forename: Ségolène
authors.initials: S
authors.lastname: Claeyssens
authors.forename: Claude
authors.initials: C
authors.lastname: Léonard
authors.forename: Sabine
authors.initials: S
authors.lastname: Charrier
authors.forename: William
authors.initials: W
authors.lastname: Vainchenker
authors.forename: Gil
authors.initials: G
authors.lastname: Tchernia
authors.forename: Jean
authors.initials: J
authors.lastname: Delaunay
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D018899:CpG Islands / Q000235:genetics; D004485:Eczema / Q000209:etiology; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000150:complications / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein