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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