USH2综合征型耳聋的基因型与表型特征研究进展

吴玉森;王秋菊;

1:解放军总医院耳鼻咽喉头颈外科解放军耳鼻咽喉研究所

2:浙江中医药大学

摘要
<正>USH2综合征型耳聋,是最常见的Usher综合征亚型,表现为先天性中至重度听力损失,迟发型渐进性视网膜色素变性(又称色素性视网膜炎),且不伴有前庭功能异常,其发病率约占Usher综合征的56%~67%。Usher综合征又称遗传性耳聋-色素性视网膜炎综合征,是一个涉及听力下降、视网膜色素变性,伴或不伴有前庭功能障碍的常染色体隐性遗传病;根据其表型可分为三种亚型,分别为USH1、USH2、USH3型。Usher综合征发病率占2/10万~6.
关键词
基金项目(Foundation):
国家自然科学基金重点项目(81530032);国家自然科学基金青年科学基金项目(81600814)资助;; 国家重大科学研究计划项目(2014CB943001)
作者
吴玉森;王秋菊;
参考文献

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吴玉森王秋菊