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Article

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2018

Eisenberger Tobias, Di Donato Nataliya, Decker Christian, Delle Vedove Andrea, Neuhaus Christine, Nürnberg Gudrun, Toliat Mohammad, Nürnberg Peter, Mürbe Dirk, Bolz Hanno Jörn

Abstract excerpt

PurposeHearing loss is genetically extremely heterogeneous, making it suitable for next-generation sequencing (NGS). We identified a four-generation family with nonsyndromic mild to severe hearing loss of the mid- to high frequencies and onset from early childhood to second decade in seven members.MethodsNGS of 66 deafness genes, Sanger sequencing, genome-wide linkage analysis, whole-exome sequencing (WES),...

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Identifiers

PMID: 29309402
DOI: 10.1038/gim.2017.155
PMCID: PMC5993672

Genes

PTPRQ

Variants

Provenance

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