Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

American journal of medical genetics. Part A - 15 Jul 2007

Hildebrand Michael S, Coman David, Yang Tao, Gardner R J McKinlay, Rose Elizabeth, Smith Richard J H, Bahlo Melanie, Dahl Hans-Henrik M

Abstract excerpt

Nonsyndromic autosomal dominant sensorineural hearing loss (SNHL) at the DFNA10 locus was described in two families in 2001. Causative mutations that affect the EyaHR domain of the 'Eyes absent 4' (EYA4) protein were identified. We report on the clinical and genetic analyses of an Australian family with nonsyndromic SNHL. Screening of the EYA4 gene showed the novel polypyrimidine tract variation ca. 1,282-12T > A...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Audiometry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Mapping

Share to Chromosomes, Human, Pair 6

Share to Family Health

Share to Hearing Loss

Share to Lod Score

Share to Trans-Activators

Source

Identifiers

PMID: 17568404
DOI: 10.1002/ajmg.a.31860

Genes

EYA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.PMID 17568404Read ↗

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

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

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

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 ↗

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

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

Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.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 ↗

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

⌁Select a neighboring publication to make it the new centre.