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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...

Topics

Asian People
China
Chromosomes, Human, Pair 7
Family
Founder Effect
Genetic Linkage
Haplotypes
Hearing Loss, Sensorineural
Humans
Korea
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Receptors, Estrogen

Source

Open in PubMed Open full text

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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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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