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Article

WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype.

Orphanet journal of rare diseases - 27 Mar 2026

Huang Mei, Wei Qianying, Qin Yao, Qin Lu, Shao Ying, Wang Suyu, Qu Xinyi, Yang Tao, Zhang Mei

Abstract excerpt

BACKGROUND: Wolfram syndrome is a rare disease caused by the mutation of WFS1 gene, characterized as s spectrum of disorders. We aim to investigate the clinical features and pathogenic mechanisms of a WFS1 missense mutation inducing atypical phenotype characterized solely by isolated diabetes mellitus (DM). RESULTS: Proband and her extended families were investigated to identify mutations in the WFS1 gene. Islet...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41896889
DOI: 10.1186/s13023-026-04291-9
PMCID: PMC13147663

Genes

WFS1
ATF4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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