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

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