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Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome

✍ Scribed by Koon-Wing Chan; Tsz-Leung Lee; Brian Hon-Yin Chung; Xiqiang Yang; Yu-Lung Lau

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 150 KB
Volume: 20
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9048

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✦ Synopsis

The Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indicated that the mutated genotypes are also highly variable. In this study, we performed PCR-direct sequencing analysis of the WAS gene in six unrelated Chinese families. Five novel mutations identified, included two nonsense mutations (506C-->T, 1388-->T), a small insertion (685-686insCGCA) and two single-base deletions (384delT, 984delC). All of the mutations are predicted to lead to premature translational termination of WASP.

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