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Article

Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Oct 2015

Beck Christopher, Pérez-Álvarez Jose Carmelo, Sigruener Alexander, Haubner Frank, Seidler Till, Aslanidis Charalampos, Strutz Jürgen, Schmitz Gerd

Abstract excerpt

The prevalence of hearing impairment is estimated as approximately 1 on 1,000 newborn children. To assess a higher mutation detection rate in individuals with hearing loss a three-step mutation screening program consisting of GJB2 in first line, then GJB1, GJB3 and GJB6 (second step) and if tested negative or heterozygote, testing of GJA1, GJB4, SLC26A4 and PJVK (third) was performed. Audiograms were derived from...

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Source

Identifiers

PMID: 25214170
DOI: 10.1007/s00405-014-3157-5

Genes

GJB2
GJB3
GJB6
GJA1
GJB1
GJB4
PJVK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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