Abstract: Objective To investigate the clinical features and gene mutation of Wiskott-Aldrich syndrome (WAS). Methods The clinical data of an infant with WAS were analyzed and the DNA samples of all exons of his WASP gene were submitted to direct sequencing after polymerase chain reaction amplification. Results This patient was admitted to hospital,because of bloody stool,thrombocytopenia and platelet volume decreases, and the clinical score was 1; The exon 2 in EVHl zone of the WASP existed missense mutation gene:c.209G>A, p.G70E. The 70th amino acid of the encoding a protein by WASP gene was converted from mutation of glycine to glutamic acid (p.Gly70Glu).Themother was mutation gene carriers (heterozygous), but the WASP gene of his father was normal. The c.209G>A missense mutation gene was not reported until this case. Conclusions According to the boy parents’clinical characteristics with WAS, his genetic phenotypes is classified as X-linked thmmboeytopenia(XLT). Additionally decreased, his WASP gene is a novel mutations type. Therefore, a patients with hemorrhage of unknown reason, combined with thrombocytopenia and platelet volume should be timely diagnosed by WASP gene sequence analysis, and the detection to his relatives’ WASP gene sequence analysis is also very necessary.

Key words: Wiskott-Aldrich syndrome, clinical characteristics, WAS missense mutation

摘要： 目的 分析Wiskott-Aldrich综合征(WAS) 临床特征、基因突变特点。方法 回顾分析1例WAS患儿的临床资料,提取患儿外周血基因组DNA,用PCR扩增WASP基因全部外显子并进行序列分析。结果 本例患儿因“便血”入院,伴血小板减少、血小板体积减小,临床评分1分;患儿WASP基因所在的EVHl区2号外显上存在错义突变:c.209G>A,p.G70E,导致WASP基因编码的蛋白70位氨基酸由甘氨酸突变为谷氨酸(p.Gly70Glu);其母亲为该变异携带者(杂合),父亲未见突变;该病例中的错义变异c.209G>A暂无文献报道。 结论 本例男性患儿符合WAS的X连锁血小板减少症临床特点,其发病是由1种新发现的WASP基因突变所致。对不明原因的出血,伴血小板减少、血小板体积(MPV)减小的患儿应及时行WASP基因序列分析做出诊断,对其亲属进行WASP基因检测也十分必要。

关键词: Wiskott-Aldrich综合征, 临床特征, WAS基因错义突变