Human nonsyndromic sensorineural deafness

被引：166

作者：

Friedman, TB ^{[1
]}

Griffith, AJ

机构：

[1] NIDOCD, Mol Genet Lab, NIH, Rockville, MD 20850 USA

[2] NIDOCD, Neurotol Branch, Hearing Sect, NIH, Rockville, MD 20850 USA

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2003年 / 4卷

关键词：

myosin; cadherin; channel; connexin; claudin;

D O I：

10.1146/annurev.genom.4.070802.110347

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Given the unique biological requirements of sound transduction and the selective advantage conferred upon a species capable of sensitive sound detection, it is not surprising that up to 1% of the approximately 30,000 or more human genes are necessary for hearing. There are hundreds of monogenic disorders for which hearing loss is one manifestation of a syndrome or the only disorder and therefore is nonsyndromic. Herein we review the supporting evidence for identifying over 30 genes for dominantly and recessively inherited, nonsyndronlic, sensorineural deafness. The state of knowledge concerning their biological roles is discussed in the context of the controversies within an evolving understanding of the intricate molecular machinery of the inner car.

引用

页码：341 / 402

页数：62

共 344 条

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