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Article

A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.

Human mutation - 1 May 2014

Imtiaz Ayesha, Kohrman David C, Naz Sadaf

Abstract excerpt

More than 360 million humans are affected with some degree of hearing loss, either early or later in life. A genetic cause for the disorder is present in a majority of the cases. We mapped a locus (DFNB101) for hearing loss in humans to chromosome 5q in a consanguineous Pakistani family. Exome sequencing revealed an insertion mutation in GRXCR2 as the cause of moderate-to-severe and likely progressive hearing...

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Identifiers

PMID: 24619944
DOI: 10.1002/humu.22545
PMCID: PMC4123198

Genes

GRXCR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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