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Article

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.

American journal of human genetics - 1 Jun 2007

Modamio-Hoybjor Silvia, Mencia Angeles, Goodyear Richard, del Castillo Ignacio, Richardson Guy, Moreno Felipe, Moreno-Pelayo Miguel Angel

Abstract excerpt

We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss. We report here on the identification of a mutation in CCDC50 as the cause of hearing loss in the family. CCDC50 encodes Ymer, an effector of epidermal growth factor (EGF)-mediated cell signaling that is ubiquitously expressed in different organs and has been...

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Identifiers

PMID: 17503326
DOI: 10.1086/518311
PMCID: PMC1867096

Genes

CCDC50
EGF

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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