A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.

ABSTRACT:

Background

The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have documented the clinical phenotype and genetic basis of autosomal dominant nonsyndromic hearing loss in Mongolians.

Methods

In this study, we performed exon capture sequencing of a Mongolian family with hereditary hearing loss and identified a novel mutation in TECTA gene, which encodes α -tectorin, a major component of the inner ear extracellular matrix that contacts the specialized sensory hair cells.

Results

The novel G → T missense mutation at nucleotide 6016 results in a substitution of amino acid aspartate at 2006 with tyrosine (Asp2006Tyr) in a highl

SUBMITTER: Bai H 

PROVIDER: S-EPMC3994966 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature