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Article

A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family.

Clinical genetics - 1 Apr 2023

Xu Liangpu, Wang Xinrui, Li Jia, Chen Lingji, Wang Haiwei, Xu Shiyi, Zhang Yanhong, Li Wei, Yao Pengcheng, Tan Meihua, Zhou Si, Chen Meihuan, Pan Yali, Chen Xuemei, Chen Xiaolan, Liu Yunliang, Lin Na, Huang Hailong, Cao Hua

Abstract excerpt

The fimbrin protein family contains a variety of proteins, among which Plastin1 (PLS1) is an important member. According to recent studies, variations in the coding region of the PLS1 gene are associated with the development of deafness. However, the molecular mechanism of deafness caused by PLS1 gene variants remains unknown. Whole-exome sequencing was performed on hearing-impaired family members and hearing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36537221
DOI: 10.1111/cge.14283

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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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