Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.

ABSTRACT:

Background

Variants in TMC1 (transmembrane channel-like 1) can cause both autosomal dominant and recessive hearing loss in human population. Mice with Tmc1 variants have been shown to be ideal animal models for gene therapy. In this article, we report four TMC1 variants in four different Chinese families and the follow-up auditory phenotype of a previously reported family.

Methods

Four families with TMC1 variants, as well as a previously described family with TMC1 variant orthologous to the Beethoven mouse, were recruited in this study. A comprehensive auditory evaluation was performed on all ascertained family members. High-throughput sequencing was conducted using genomic DNA from the probands and other family members to identify probable deafness genes.

Results

We

SUBMITTER: Wang H 

PROVIDER: S-EPMC6081220 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature