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Article

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

American journal of human genetics - 9 Apr 2010

Schraders Margit, Oostrik Jaap, Huygen Patrick L M, Strom Tim M, van Wijk Erwin, Kunst Henricus P M, Hoefsloot Lies H, Cremers Cor W R J, Admiraal Ronald J C, Kremer Hannie

Abstract excerpt

We identified overlapping homozygous regions within the DFNB84 locus in a nonconsanguineous Dutch family and a consanguineous Moroccan family with sensorineural autosomal-recessive nonsyndromic hearing impairment (arNSHI). The critical region of 3.17 Mb harbored the PTPRQ gene and mouse models with homozygous mutations in the orthologous gene display severe hearing loss. We show that the human PTPRQ gene was not...

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Identifiers

PMID: 20346435
DOI: 10.1016/j.ajhg.2010.02.015
PMCID: PMC2850434

Genes

PTPRQ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.PMID 20346435Read ↗

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