Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

doi:10.1016/j.ajhg.2012.09.012

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Article

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

American journal of human genetics - 2 Nov 2012

Schraders Margit, Ruiz-Palmero Laura, Kalay Ersan, Oostrik Jaap, del Castillo Francisco J, Sezgin Orhan, Beynon Andy J, Strom Tim M, Pennings Ronald J E, Zazo Seco Celia, Oonk Anne M M, Kunst Henricus P M, Domínguez-Ruiz María, García-Arumi Ana M, del Campo Miguel, Villamar Manuela, Hoefsloot Lies H, Moreno Felipe, Admiraal Ronald J C, del Castillo Ignacio, Kremer Hannie

Abstract excerpt

Already 40 genes have been identified for autosomal-recessive nonsyndromic hearing impairment (arNSHI); however, many more genes are still to be identified. In a Dutch family segregating arNSHI, homozygosity mapping revealed a 2.4 Mb homozygous region on chromosome 11 in p15.1-15.2, which partially overlapped with the previously described DFNB18 locus. However, no putative pathogenic variants were found in USH1C,...

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Identifiers

PMID: 23122587
DOI: 10.1016/j.ajhg.2012.09.012
PMCID: PMC3487128

Genes

OTOG

Variants

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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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