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Article

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.

Journal of medical genetics - 1 Jan 2022

Hu Kun, Zatyka Malgorzata, Astuti Dewi, Beer Nicola, Dias Renuka P, Kulkarni Archana, Ainsworth John, Wright Benjamin, Majander Anna, Yu-Wai-Man Patrick, Williams Denise, Barrett Timothy

Abstract excerpt

BACKGROUND: Wolfram syndrome (WFS) is a rare disorder characterised by childhood-onset diabetes mellitus and progressive optic atrophy. Most patients have variants in the WFS1 gene. We undertook functional studies of WFS1 variants and correlated these with WFS1 protein expression and phenotype. METHODS: 9 patients with a clinical diagnosis of WFS were studied with quantitative PCR for markers of endoplasmic...

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Identifiers

PMID: 34006618
DOI: 10.1136/jmedgenet-2020-107257
PMCID: PMC8685651

Provenance

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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