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Article

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.

Journal of human genetics - 1 Jan 2010

Park Hong-Joon, Cho Hyun-Ju, Baek Jeong-In, Ben-Yosef Tamar, Kwon Tae-Jun, Griffith Andrew J, Kim Un-Kyung

Abstract excerpt

Mutations in the DFNA5 gene are known to cause autosomal dominant non-syndromic hearing loss (ADNSHL). To date, five DFNA5 mutations have been reported, all of which were different in the genomic level. In this study, we ascertained a Korean family with autosomal dominant, progressive and sensorineural hearing loss and performed linkage analysis that revealed linkage to the DFNA5 locus on chromosome 7. Sequence...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19911014
DOI: 10.1038/jhg.2009.114
PMCID: PMC3433838

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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Research trail→

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Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.PMID 19911014Read ↗

A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.Semantic proximity Read ↗

A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family.Semantic proximity Read ↗

IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.Semantic proximity Read ↗

A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.Semantic proximity Read ↗

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.Semantic proximity Read ↗

Nonsyndromic hearing impairment is associated with a mutation in DFNA5.Semantic proximity Read ↗

A novel splice site variant c.1183+1 G>C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese FamilySemantic proximity Read ↗

Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss.Semantic proximity Read ↗

[Analysis of DFNA5 gene variant in a Chinese pedigree affected with late-onset non-syndromic hearing loss].Semantic proximity Read ↗

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.Semantic proximity Read ↗

DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?Semantic proximity Read ↗

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.Semantic proximity Read ↗

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