Hereditary sensorineural hearing loss of unknown cause involving mitochondrial DNA 1555 mutation

被引：12

作者：

Iwasaki, S ^{[1
]}

Tamagawa, Y ^{[1
]}

Ocho, S ^{[1
]}

Hoshino, T ^{[1
]}

Kitamura, K ^{[1
]}

机构：

[1] Hamamatsu Univ Sch Med, Dept Otolaryngol, Hamamatsu, Shizuoka 4313192, Japan

来源：

ORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY AND ITS RELATED SPECIALTIES | 2000年 / 62卷 / 02期

关键词：

mitochondrial DNA; sensorineural hearing loss; 1555 point mutation; aminoglycoside;

D O I：

10.1159/000027725

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

We report on a family with maternally inherited sensorineural hearing loss, in which no history of aminoglycoside injection and no other specific etiology could be identified in any member. A 1555 A-to-G mutation of mitochondrial DNA was found in all members demonstrating hearing loss. The hearing in the propositus and his sister was severely impaired at a younger age than that in the mother. This case suggests that the 1555 point mutation of mitochondrial DNA has potential to promote inherited nonsyndromic hearing loss without any known etiology. Copyright (C) 2000 S. Karger AG, Basel.

引用

页码：100 / 103

页数：4

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