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Identification of six novel WASP gene mutations in patients suffering from Wiskott‐Aldrich syndrome
Author(s) -
Brooimans Rik A.,
van den Berg Adriënne J.A.M,
Tamminga Rienk Y.J.,
Revesz Tom,
Wulffraat Nico M.,
Zegers Ben J.M.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200004)15:4<386::aid-humu24>3.0.co;2-1
Subject(s) - wiskott–aldrich syndrome protein , wiskott–aldrich syndrome , biology , genetics , identification (biology) , gene , mutation , actin cytoskeleton , ecology , cytoskeleton , cell
Mutation in the gene encoding the Wiskott‐Aldrich Syndrome protein (WASP) has been identified as the genetic defect responsible for WAS, an X‐linked primary immunodeficiency disease characterized by eczema, thrombocytopenia, and recurrent infections. In this study, the WASP gene of 7 unrelated patients with classical WAS of Dutch descent was examined by single‐strand conformation polymorphism and sequence analysis. We have identified 6 novel mutations that involve nonsense mutations (196C→A, 344C→T), or small deletions (553delG, 768del19, IVS8+1delGTGA, 911delT), all of which result in predicted truncation of WASP protein synthesis. Hum Mutat 15:386–387, 2000. © 2000 Wiley‐Liss, Inc.