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Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome
R A Brooimans1, A J van den Berg, R Y Tamminga
1Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, P.O. Box 85090, 3508 AB Utrecht, The Netherlands. R.Brooimans@wkz.azu.nl
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.
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