Usher综合征的分子遗传学研究及治疗进展

王肃旸;刘晓雯;郭玉芬;

1:兰州大学第二医院耳鼻咽喉科

2:甘肃省妇幼保健院耳鼻咽喉科

3:甘肃省卫生与健康委员会

摘要
<正>Usher综合征(Usher syndrome,USH)又称遗传性聋-视网膜色素变性综合征,是以感音神经性聋和渐进性视网膜色素变性(retinitis pigmentosa,RP)为主要临床表现的一种常染色体隐性遗传性疾病,主要影响听觉、视觉和平衡觉。据估计全球约有40万患者,普通人群中USH发病率约为3/100 000~6.2/100 000,占所有先天性聋的5%及RP病例的18%。Usher综合征具有临床异质性和遗传异质性,分为三种不同的临床亚型,与多个基因位点相关。Usher基因编码多种蛋白质,这些蛋白质在内耳和视网膜中表达,在感觉毛细胞发育和功能以及光感受器维持方面发挥重要功能。
关键词
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作者
王肃旸;刘晓雯;郭玉芬;
参考文献

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王肃旸刘晓雯郭玉芬