Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.
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.
Department of Paediatrics, The University of Hong Kong, Hong Kong.
Koon-Wing
KW
Chan
Tsz-Leung
TL
Lee
Brian Hon-Yin
BH
Chung
Xiqiang
X
Yang
Yu-Lung
YL
Lau
D017668:Age of Onset; D017398:Alternative Splicing / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D014427:Twins / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein
D018389:Codon, Nonsense; D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein; D004247:DNA