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

Topics Community

Article

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

Acta oto-laryngologica - 1 May 2022

Jin ZhanGuo, Zhu Qingwen, Lu Yu, Cheng Jing, Yuan HuiJun, Han DongYi

Abstract excerpt

BACKGROUND: To date, seven DFNA5 mutations have been reported in families with autosomal dominant non-syndromic hearing loss worldwide. All the mutations cause exon 8 skipping at the mRNA level, that led to the protein truncated and the protein could exert a gain of ototoxic function. OBJECTIVE: In this study, we found an autosomal-dominant non-syndromic hearing loss Chinese pedigree which spanned four...

Topics

Humans
China
Deafness
Hearing Loss
Hearing Loss, Sensorineural
Mutation
Pedigree
Pore Forming Cytotoxic Proteins
Receptors, Estrogen

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35640035
DOI: 10.1080/00016489.2019.1597984

Provenance

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss.PMID 35640035Read ↗

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 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 ↗

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 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 FamilySemantic proximity Read ↗

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.Semantic proximity Read ↗

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

Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11.Semantic proximity Read ↗

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

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

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

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