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

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:36564540", "kind": "science-record", "revision": 2, "content_hash": "sha256:603dde7812bed86879e4557a6a6688bcd2dbabd56c2bbf2665b2bbf821c4a89b", "created_at": "2026-11-01T19:01:06Z", "updated_at": "2026-11-01T21:29:47Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.", "doi": "10.1038/s41598-022-26850-3", "pmid": "36564540", "authors": ["Jing Zhao", "Siqi Zhang", "Yuan Jiang", "Yan Liu", "Jiantao Wang", "QingWen Zhu"], "journal": "Scientific reports", "year": 2022, "abstract": "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 wolframin protein was predicted by multiple computational software. From the Gene Expression Omnibus (GEO) database, we obtained GSE40585 dataset and performed enrichment analyses. The family clinically manifested as autosomal dominant NSHL. A novel WFS1 c.2421C>G (p.Ser807Arg) mutation was identified in four affected individuals in the pedigree . The p.Ser807Arg mutation is a highly conserved residue and causes an increase in protein stability. It had an important influence on not only amino acid size, charge and hydrophobicity but also protein intermolecular hydrogen bonding and spatial structure. There were differentially expressed genes (DEGs) in GSE40585 dataset. Enrichment analysis revealed that DEGs mainly functioned in amino acid metabolism, signal transduction and dephosphorylation. We reported a novel mutation c.2421C>G (p.Ser807Arg in WFS1. This study expands the mutation spectrum of WFS1.", "claims": [{"id": "claim-method", "statement": "The Gene Set Enrichment Analysis (GSEA) (v.4.2.3) was performed for all genes in study samples.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:36564540", "locator": "sections[8] \"Screening key genes and signalling pathways by bioinformatics analysis\" paragraph 2", "quote": "The Gene Set Enrichment Analysis (GSEA) (v.4.2.3) was performed for all genes in study samples."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The data supporting the results reported in the article can be found in the Supplementary Information files. 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