Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Genomic DNA was extracted, and mutation analysis of the three WS4 related genes was performed using Sanger sequencing. We detected a de novo heterozygous deletion mutation [c. 1333delT (p. Ser445Glnfs*57)] in SOX10 in the patient; however, this mutation was absent in the unaffected parents and 40 ethnicity matched healthy controls. Subsequent phylogenetic analysis and three-dimensional modelling of the SOX10 protein confirmed that the c. 1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81500925]
第一作者单位：[1]Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Lab Med, Wuhan 430030, Peoples R China
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推荐引用方式(GB/T 7714)：
wang xiong,zhu yaowu,shen na,et al.A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4[J].SCIENTIFIC REPORTS.2017,7:doi:10.1038/srep41513.
APA：
wang,xiong,zhu,yaowu,shen,na,peng,jing,wang,chunyu...&lu,yanjun.(2017).A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.SCIENTIFIC REPORTS,7,
MLA：
wang,xiong,et al."A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4".SCIENTIFIC REPORTS 7.(2017)
