Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome
Communicated by: Mark H. Paalman
Online Citation: Human Mutation, Mutation in Brief #315 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/315.pdf
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. © 2000 Wiley-Liss, Inc.
