MITF致Ⅱ型Waardenburg综合征耳聋研究进展

龚巍;冯永;宋剑;马璐

1:南华大学附属长沙中心医院耳鼻咽喉头颈外科

2:南华大学耳鼻咽喉头颈外科研究所

3:中南大学湘雅医院耳鼻咽喉头颈外科

4:南华大学衡阳医学院

摘要
<正>Waardenburg综合征(Waardenburg syndrome, WS)是最常见的综合征型聋之一,是一种典型的常染色体显性遗传病,又称为听力-色素综合征,部分基因突变可为隐性遗传[1],主要临床表现为感音神经性聋,头发、皮肤、虹膜的色素分布异常。已明确与其发病相关的基因包括:MITF、PAX3、SNAI2、SOX10、EDNRB、EDN3,根据其临床表型可分为Ⅰ型、Ⅱ型、Ⅲ型、Ⅳ型(即WS1、WS2、WS3、WS4),
关键词
基金项目(Foundation):
国家自然科学基金面上项目(82071065);; 湖南省重点研发计划项目(2020SK2106);; 南华大学人才启动项目;南华大学医学临床研究4310计划资助
作者
龚巍;冯永;宋剑;马璐
参考文献

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龚巍冯永宋剑马璐