Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.

ABSTRACT:

Importance

Sensorineural hearing loss (SNHL) is commonly caused by conditions that affect cochlear structures or the auditory nerve, and the genes identified as causing SNHL to date only explain a fraction of the overall genetic risk for this debilitating disorder. It is likely that other genes and mutations also cause SNHL.

Objective

To identify a candidate gene that causes bilateral, symmetric, progressive SNHL in a large multigeneration family of Northern European descent.

Design, setting, and participants

In this prospective genotype and phenotype study performed from January 1, 2006, through April 1, 2016, a 6-generation family of Northern European descent with 19 individuals having reported early-onset hearing loss suggestive of an autosomal dominant inheritance

SUBMITTER: Runge CL 

PROVIDER: S-EPMC5025373 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature