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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...

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Source

Identifiers

PMID: 35640035
DOI: 10.1080/00016489.2019.1597984

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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.

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

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A novel splice site variant c.1183+1 G>C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese FamilySemantic proximity Read ↗

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