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Article

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific reports - 23 Dec 2022

Zhao Jing, Zhang Siqi, Jiang Yuan, Liu Yan, Wang Jiantao, Zhu QingWen

Abstract excerpt

To analyse the pathogenic genes and mutations of a family with hereditary deafness. We recruited a three-generation family with NSHL. A detailed medical history inquiry and related examinations were performed. Next-generation sequencing (NGS) was used to confirm the gene mutation in the proband, and Sanger sequencing was used for verification. The effect of the WFS1 mutation on the function and structure of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36564540
DOI: 10.1038/s41598-022-26850-3
PMCID: PMC9789122

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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