title: Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.
abstract: Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the WAS protein (WASP) gene. The milder form of this disease is X-linked thrombocytopenia (XLT) that presents only as platelet abnormalities. Mutation analysis for 15 boys with Wiskott-Aldrich syndrome was performed. Five previously reported mutations and six novel mutations including G8X, R41X, D283E, P412fsX446, E464X, and AfsX358 were detected.
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Sepideh
authors.initials: S
authors.lastname: Safaei
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Fazlollahi
authors.forename: Masoud
authors.initials: M
authors.lastname: Houshmand
authors.forename: Amir Ali
authors.initials: AA
authors.lastname: Hamidieh
authors.forename: Mohammad Hassan
authors.initials: MH
authors.lastname: Bemanian
authors.forename: Samin
authors.initials: S
authors.lastname: Alavi
authors.forename: Farideh
authors.initials: F
authors.lastname: Mousavi
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moin
mesh_terms: D016022:Case-Control Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
chemical_list: C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein