Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

ABSTRACT:

Objective

Mutations of transmembrane channel-like 1 gene (TMC1) can cause dominant (DFNA36) or recessive (DFNB7/B11) deafness. In this article, we describe the characteristics of DFNA36 and DFNB7/B11 deafness, the features of the Tmc1 mutant mouse strains, and recent advances in our understanding of TMC1 function.

Methods

Publications related to TMC1, DFNA36, or DFNB7/B11 were identified through PubMed.

Results

All affected DFNA36 subjects showed post-lingual, progressive, sensorineural hearing loss (HL), initially affecting high frequencies. In contrast, almost all affected DFNB7/B11 subjects demonstrated congenital or prelingual severe to profound sensorineural HL. The mouse Tmc1 gene also has dominant and recessive mutant alleles that cause HL in mutant strains, in

SUBMITTER: Nakanishi H 

PROVIDER: S-EPMC4176506 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature