Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes

被引：18

作者：

Bom, SJH

Kunst, HPM

Huygen, PLM

Cremers, FPM

Cremers, CWRJ

机构：

[1] Univ Nijmegen Hosp, Dept Otorhinolaryngol, NL-6500 HB Nijmegen, Netherlands

[2] Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

来源：

BRITISH JOURNAL OF AUDIOLOGY | 1999年 / 33卷 / 05期

关键词：

audiometry; genetic hearing impairment; genetic linkage; phenotype-genotype correlation; sensorineural hearing impairment;

D O I：

10.3109/03005369909090117

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

This review is concerned with the present state of phenotypical characterization of known genotypes of non-syndromal autosomal dominant hearing impairment. A brief outline of history and context of phenotyping and genotyping of hearing impairment is given with particular reference to the most recent developments in this field, followed by descriptions of DFNA1, DFNA2, DFNA5, DFNA6/14, DFNA8/12, DFNA9, DFNA13, DFNA17 and DFNA21. Phenotyping those known genotypes may support the ongoing search for mutations in the corresponding gene and enhance genetic counselling. It is recommended that sufficient attention is given to a detailed description of the phenotype in each (newly) described hereditary hearing impairment disorder.

引用

收藏

页码：335 / 348

页数：14

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