Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.

ABSTRACT:

Background

Genetic factors play an important role in hearing loss, contributing to approximately 60% of cases of congenital hearing loss. Autosomal dominant deafness accounts for approximately 20% of cases of hereditary hearing loss. Diseases with autosomal dominant inheritance often show pleiotropy, different degrees of penetrance, and variable expressivity.

Methods

A three-generation Chinese family with autosomal dominant nonsyndromic hearing impairment (ADNSHI) was enrolled in this study. Audiometric data and blood samples were collected from the family. In total, 129 known human deafness genes were sequenced using next-generation sequencing (NGS) to identify the responsible gene mutation in the family. Whole Exome Sequencing (WES) was performed to exclude any other varia

SUBMITTER: Yuan Y 

PROVIDER: S-EPMC4736096 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature