First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.

ABSTRACT:

Background

Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal dominant non-syndromic hearing loss (ADNSHL) in a German family. The study presented the only, so far known, PTPRQ pathogenic variant (c.6881G>A) in ADNSHL. It is located in the last PTPRQ coding exon and introduces a premature stop codon (p.Trp2294*).

Methods

A five-generation Polish family with ADNSHL was recruited for the study (n = 14). Thorough audiological, neurotological and imaging studies were carried out to precisely define the phenotype. Genomic DNA was isolated from peripheral blood samples or buccal swabs of available family me

SUBMITTER: Ozieblo D 

PROVIDER: S-EPMC6815010 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature