中国免疫学杂志2012，Vol.28Issue(9)：846-848,861,4.DOI:10.3969/j.issn.1000-484X.2012.09.019
1例Wiskott-Aldrich综合征临床特征和致病基因突变分析
Clinical and genetic analysis in a Chinese boy with Wiskott-Aldrich syndrome
摘要
Abstract
Objective:To explore the clinical and genetic characteristics of a patient with Wiskott -Aldrich syndrome(WAS). Methods: Here clinical features of a Chinese boy with WAS were analysed , DNA samples were obtained from the patient and parents , the exons and flanking intronic sequences of the WASP gene were analysed by the polymerase chain reaction and sequencing . Results: The case had a classical WAS phenotype , his clinical score was 5; Coomb's test, antibodies to nuclear antigen (ANA) and rheumatoid factor were positive; the patient experienced autoimmune disease . Sequencing revealed a nonsense mutation , c. 665C >T (p. R211X) , the patient's mother was the carrier of the heterozygous mutation in WASP gene. Conclusion: The Chinese boy with WAS results from the c. 665C >T (p. R211X) mutation of WASP gene. This is the first report that the phenotype of a classical WAS with autoimmune disease was associated with the genotype of p . R211X in Chinese.关键词
Wiskott-Aldrich综合征/WASP基因/无义突变/自身免疫性疾病Key words
Wiskott-Aldrich syndrome/ WASP gene/ Nonsense mutation/ Autoimmune disease分类
医药卫生引用本文复制引用
刘维亮,李芳,何志旭,蒋红雨,艾戎..1例Wiskott-Aldrich综合征临床特征和致病基因突变分析[J].中国免疫学杂志,2012,28(9):846-848,861,4.基金项目
本文为贵州省科技支撑计划项目([2010]3173) （[2010]3173）
