Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

ABSTRACT:

Objective

To identify the genetic etiology in a family with autosomal dominant progressive sensorineural hearing loss.

Design

Prospective molecular genetic research study.

Setting

Academic genetic research laboratory.

Participants

Seventeen members of a family with dominant progressive nonsyndromic sensorineural hearing loss: 9 affected, 6 unaffected, and 2 spouses.

Interventions

Clinical data from questionnaires, interviews, serial audiograms, and medical records; genetic data from genome-wide linkage analysis and candidate gene mutation analysis.

Main outcome measures

Symptoms, age at onset, serial audiometric data, and the presence or absence of a deafness-associated mutation.

Results

Affected individuals in this family presented with au

SUBMITTER: Arnett J 

PROVIDER: S-EPMC3278911 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature