WASP基因突变所致Wiskott-Aldrich综合征1例并文献复习

李栋梁; 位欣丽; 刘跃辉; 袁军清

doi:10.13201/j.issn.1004-2806.2015.03.009

WASP基因突变所致Wiskott-Aldrich综合征1例并文献复习

- 1. 解放军白求恩国际和平医院血液病科(石家庄, 050082);
- 2. 河北无极血康医院

详细信息

通讯作者: 李栋梁,E-mail:ldle2008@sina.com

中图分类号: R392.2

收稿日期: 2014-08-21

A case of Wiskott-Aldrich syndrome caused by WASP gene mutation and literature review

- 1. Department of Hematology, Bethune International Peace Hospital of PLA, Shijiazhuang, 050082, China;
- 2. Xuekang Hospital of Wuji

More Information

Corresponding author: LI Dongliang, E-mail: ldle2008@sina.com

Received Date: 21 August 2014

摘要

摘要: 目的:分析1例Wiskott-Aldrich综合征患儿的临床特征、基因突变及蛋白表达。方法:总结患儿的临床特征,提取患儿外周血基因组DNA,针对WASP基因所有编码外显子及外显子和内含子交界处进行PCR扩增测序,并采用流式细胞术(FCW)检测WASP表达。结果:本例患儿具有典型的WAS表型,并伴有自身抗体ANA阳性,临床评分为3分。患儿为WASP基因第8外显子剪接位点突变:c.777+1G>A,编码蛋白质终止于aa246;FCW检测WASP表达阴性。结论:本例男性Wiskott-Aldrich综合征患儿具有典型的WAS表型与自身抗体阳性的临床特点,其发病是由少见的WASP基因剪接位点突变所致。
- Wiskott-Aldrich综合征 /
- 基因 /
- 突变 /
- DNA序列
Abstract: Objective:To explore the clinical characteristics,genetic mutations and protein expression of a patient with Wiskott-Aldrich syndrome (WAS).Method:The clinical features of a boy suffering from WAS were analyzed.DNA samples were obtained from the peripheral blood of patient.All the exons and intron-exon boundaries of the WASP gene were analyzed by the polymerase chain reaction(PCR) and sequencing;WASP expression was detected by Flow cytometry(FCW).Result:The case had a classical WAS phenotype and positive antibody to nuclear antigen (ANA);his clinical score was 3;Sequencing revealed a splice site mutation in exon8 of WASP gene,c.777+1G>A,and this mutation led to premature translational termination at amino acid position 246;FCW analysis revealed that WASP was negative.Conclusion:The boy with classical WAS phenotype and positive ANA results from the rare splice site mutation of WASP gene.
- wiskott-aldrich syndrome /
- gene /
- mutation /
- DNA sequence

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参考文献(6)

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