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Article

A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.

Human molecular genetics - 3 Sept 2025

Yang Yan, Xiong YuanPing, Lai Hua, Feng Chuanxin, Chen ZhongFa, Huang YaJuan, Guo Zhen, Li XinYu, Luo Laipeng, Zhao Feng, Wu Ping, Luo Haiyan, Liu Yanqiu, Liu Yuhe, Zou Yongyi

Abstract excerpt

The TECTA gene encodes α-tectorin, the major non-collagenous glycoprotein of the tectorial membrane, and plays a critical role in intracochlear sound transmission. Unsurprisingly, mutations in TECTA underlie hearing loss in both mice and humans. Two forms of hearing loss are linked to TECTA mutations: DFNA8/12 (autosomal dominant) and DFNB21 (autosomal recessive). Using a combination of clinical examination,...

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Identifiers

PMID: 40583560
DOI: 10.1093/hmg/ddaf109
PMCID: PMC12409619

Genes

TECTA

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A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.PMID 40583560Read ↗

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