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A Novel WASP Gene Mutation in a Chinese Boy with Wiskott-Aldrich Syndrome 期刊论文

编号：

57211a9f-d8ce-4bd8-a44e-986e88faf56d
作者：

Wu, Hui(武辉)#^[1]Hu, Cheng^[2];Dang, Dan^[1];Guo, YingJie*^[3]
语种：

英文
期刊：

INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION ISSN：0971-4502 2014 年 30 卷 (S353 - S355) ; SEP
收录：
关键词：

Wiskott-Aldrich syndrome Gene mutation WASP gene
摘要：

Wiskott-Aldrich syndrome (WAS) is a rare inherited X-linked recessive immunodeficiency disease characterized by eczema, thrombocytopenia, immune deficiency, and bloody diarrhea and is caused by WASP gene mutations. This study reports a case of WAS with a novel mutation. A newborn Chinese infant was admitted to the hospital because of intermittent bloody stools, recurrent infections, and persistent thrombocytopenia. Genetic analysis of the coding sequences and flanking splice sites of the WASP gene showed a novel WASP gene deletion mutation (1144delA) at exon 10. Family history showed that both his mother and aunt had a heterozygous genotype of the WASP gene. The infant died at the age of 4 months due to persistent thrombocytopenia and severe pneumonia. A novel WASP gene deletion (1144delA) at exon 10 was identified in a Chinese infant with WAS. This base deletion results in a frame-shift mutation of the gene for an early stop codon at amino acid 444.
推荐引用方式
GB/T 7714：

Wu Hui,Hu Cheng,Dang Dan, et al. A Novel WASP Gene Mutation in a Chinese Boy with Wiskott-Aldrich Syndrome [J].INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION,2014,30:S353-S355.
APA：

Wu Hui,Hu Cheng,Dang Dan,Guo Ying-Jie.(2014).A Novel WASP Gene Mutation in a Chinese Boy with Wiskott-Aldrich Syndrome .INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION,30:S353-S355.
MLA：

Wu Hui, et al. "A Novel WASP Gene Mutation in a Chinese Boy with Wiskott-Aldrich Syndrome" .INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION 30(2014):S353-S355.
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