Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss:: KCNQ4 is a gene responsible in Japanese

被引：32

作者：

Akita, J

Abe, S

Shinkawa, H

Kimberling, WJ

Usami, S

机构：

[1] Shinshu Univ, Sch Med, Dept Otorhinolaryngol, Matsumoto, Nagano 3908621, Japan

[2] Hirosaki Univ, Sch Med, Dept Otorhinolaryngol, Hirosaki, Aomori, Japan

[3] Boys Town Natl Res Hosp, Dept Genet, Omaha, NE 68131 USA

来源：

JOURNAL OF HUMAN GENETICS | 2001年 / 46卷 / 07期

关键词：

autosomal dominant; nonsyndromic hearing loss; MY07A; KCNQ4; GJB3;

D O I：

10.1007/s100380170053

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Sixteen Japanese nonsyndromic autosomal dominant sensorineural hearing loss (ADSNHL) families were investigated clinically as well as genetically. Most families showed postlingual hearing loss. Although the severity of their hearing loss varied, most patients showed mild-moderate sensorineural hearing loss of a progressive nature. Mutation analysis was performed fur the MYO7A, KCNQ4, and GJB3 genes, which are known to be responsible for autosomal dominant sensorineural hearing loss. The present study reports that a mutation in KCNQ4, a member of a large family of potassium channel genes, was responsible for ADSNHL in one Japanese family.

引用

页码：355 / 361

页数：7

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