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Article

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

BMC medical genomics - 21 Jul 2022

Li Qiong, Wang Shujuan, Liang Pengfei, Li Wei, Wang Jian, Fan Bei, Yang Yang, An Xiaogang, Chen Jun, Zha Dingjun

Abstract excerpt

BACKGROUND: The most frequent clinical presentation of autosomal dominant nonsyndromic hearing loss (ADNSHL) is bilateral, symmetrical, postlingual progressive sensorineural hearing loss, which begins with impairment at high frequencies and eventually progresses to hearing loss at all frequencies. Autosomal dominant deafness-5 (DFNA5) is a subtype of ADNSHL caused by heterozygous variants in the gasdermin E...

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Identifiers

PMID: 35864542
DOI: 10.1186/s12920-022-01315-8
PMCID: PMC9306051

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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