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Article

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.

Molecular medicine (Cambridge, Mass.) - 1 Oct 2002

Pfister Markus, Tóth Tímea, Thiele Holger, Haack Birgit, Blin Nikolaus, Zenner Hans-Peter, Sziklai István, Nürnberg Peter, Kupka Susan

Abstract excerpt

BACKGROUND: Hereditary hearing impairment (HHI) is a heterogeneous class of disorders that shows various patterns of inheritance and involves a multitude of different genes. Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. EYA4 is orthologous to the Drosophila gene eya ("eyes absent"), a key regulator of eye formation. EYA4 plays an...

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Source

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Identifiers

PMID: 12477971
PMCID: PMC2039947

Genes

EYA4

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.PMID 12477971Read ↗

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.Semantic proximity Read ↗

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.Semantic proximity Read ↗

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.Semantic proximity Read ↗

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.Semantic proximity Read ↗

Identification of a novel mutation of EYA4 in a Chinese family with delayed nonsyndromic hearing loss and analysis of molecular epidemiology of EYA4 mutationsSemantic proximity Read ↗

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.Semantic proximity Read ↗

Prevalence and clinical features of hearing loss caused by EYA4 variants.Semantic proximity Read ↗

EYA4, a novel vertebrate gene related to Drosophila eyes absent.Semantic proximity Read ↗

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.Semantic proximity Read ↗

Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.Semantic proximity Read ↗

Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.Semantic proximity Read ↗

Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype.Semantic proximity Read ↗

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