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

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Abstract
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.

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