The molecular genetics of Usher syndrome

被引：120

作者：

Ahmed, ZM

Riazuddin, S

Riazuddin, S

Wilcox, ER

机构：

[1] NIDCD, Genet Mol Lab, Sect Human Genet, NIH, Rockville, MD 20850 USA

[2] Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan

来源：

CLINICAL GENETICS | 2003年 / 63卷 / 06期

关键词：

deafness; retinitis pigmentosa; Usher syndrome; vestibular dysfunction;

D O I：

10.1034/j.1399-0004.2003.00109.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Association of sensorineural deafness and progressive retinitis pigmentosa with and without a vestibular abnormality is the hallmark of Usher syndrome and involves at least 12 loci among three different clinical subtypes. Genes identified for the more commonly inherited loci are USH2A (encoding usherin), MYO7A (encoding myosin VIIa), CDH23 (encoding cadherin 23), PCDH15 (encoding protocadherin 15), USH1C (encoding harmonin), USH3A (encoding clarin 1), and USH1G (encoding SANS). Transcripts from all these genes are found in many tissues/cell types other than the inner ear and retina, but all are uniquely critical for retinal and cochlear cell function. Many of these protein products have been demonstrated to have direct interactions with each other and perform an essential role in stereocilia homeostasis.

引用

收藏

页码：431 / 444

页数：14

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