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Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome

✍ Scribed by Rik A. Brooimans; Adriënne J.A.M van den Berg; Rienk Y.J. Tamminga; Tom Revesz; Nico M. Wulffraat; Ben J.M. Zegers

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
23 KB
Volume
15
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 (196Cà àA, 344Cà àT), or small deletions (553delG, 768del19, IVS8+1delGTGA, 911delT), all of which result in predicted truncation of WASP protein synthesis.

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