本文選題：新發(fā)突變 + Waardenburg綜合征�。� 參考：《中國婦幼保健》2016年18期

【摘要】：目的分析一個Waardenburg綜合征(WS)家系成員的臨床表型和基因突變。方法收集一個WS綜合征患者家系的臨床資料,采用Sanger測序法對家系成員進行WS綜合征相關(guān)基因的外顯子測序分析。結(jié)果家系中共有2例患者,先證者及其弟弟具有WSⅡ的先天性感音神經(jīng)性耳聾和虹膜色素異常的臨床特征,均攜帶SOX10基因新發(fā)c.52GT(p.E18X)雜合致病突變;先證者父親、母親和姐姐SOX10基因序列測序分析均未見異常。結(jié)論在一個Waardenburg綜合征家系中發(fā)現(xiàn)未見報道的SOX10基因新發(fā)突變,對于該病遺傳咨詢和產(chǎn)前診斷具有重要意義。
[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，

本文編號：2025354