Discover Community Create You

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 EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.

Journal of translational medicine - 12 May 2015

Huang Aiping, Yuan Yongyi, Liu Yanping, Zhu Qingwen, Dai Pu

Abstract excerpt

BACKGROUND: Hereditary hearing loss is a heterogeneous class of disorders showing various patterns of inheritance and involving many genes. Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. METHODS: We report on a Chinese family with sensorineural, progressive hearing loss. Next-generation sequencing (NGS) was conducted using DNA samples...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Codon, Terminator
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Hearing Loss, Sensorineural

Share to Pedigree

Share to Trans-Activators

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 25963406
DOI: 10.1186/s12967-015-0483-3
PMCID: PMC4448535

Genes

EYA4

Variants

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.PMID 25963406Read ↗

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 ↗

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

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

Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic 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 ↗

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

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

Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.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 splice site mutation in EYA4 causes DFNA10 hearing loss.Semantic proximity Read ↗

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

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