一个Waardenburg综合征家系的致病基因突变分析

发布时间：2018-06-16 04:38

  本文选题：新发突变 + Waardenburg综合征　； 参考：《中国妇幼保健》2016年18期

【摘要】：目的分析一个Waardenburg综合征(WS)家系成员的临床表型和基因突变。方法收集一个WS综合征患者家系的临床资料,采用Sanger测序法对家系成员进行WS综合征相关基因的外显子测序分析。结果家系中共有2例患者,先证者及其弟弟具有WSⅡ的先天性感音神经性耳聋和虹膜色素异常的临床特征,均携带SOX10基因新发c.52GT(p.E18X)杂合致病突变;先证者父亲、母亲和姐姐SOX10基因序列测序分析均未见异常。结论在一个Waardenburg综合征家系中发现未见报道的SOX10基因新发突变,对于该病遗传咨询和产前诊断具有重要意义。
[Abstract]:Objective to analyze the clinical phenotype and gene mutation of a member of Waardenburg syndrome (WS) family. Methods the clinical data of a family with WS syndrome were collected and sequenced by Sanger sequencing. Results there were 2 patients in a family. The proband and his younger brother had the clinical characteristics of congenital sensorineural deafness and iris pigment abnormality of WS 鈪，

本文编号：2025354