Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

ABSTRACT:

Purpose

The aim of this study was to determine the genetic cause of autosomal dominant nonsyndromic hearing loss segregating in a multigenerational family.

Methods

Clinical examination, genome-wide linkage analysis, and exome sequencing were carried out on the family.

Results

Affected individuals presented with early-onset progressive mild hearing impairment with a fairly flat, gently downsloping or U-shaped audiogram configuration. Detailed clinical examination excluded any additional symptoms. Linkage analysis detected an interval on chromosome 1p21 with a logarithm of the odds (LOD) score of 8.29: designated locus DFNA37. Exome sequencing identified a novel canonical acceptor splice-site variant c.652-2A>C in the COL11A1 gene within the DFNA37 locus. Genotyping of

SUBMITTER: Booth KT 

PROVIDER: S-EPMC6431578 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature