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Article

Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.

American journal of human genetics - 1 Oct 1996

Collier D A, Barrett T G, Curtis D, Macleod A, Arranz M J, Maassen J A, Bundey S

Abstract excerpt

Wolfram syndrome (DIDMOAD syndrome; MIM 222300) is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and bilateral optic atrophy. Previous linkage analysis of multiply affected families indicated that the gene for Wolfram syndrome is on chromosome 4p, and it produced no evidence for locus heterogeneity. We have investigated 12 U.K. families with Wolfram syndrome,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 8808601
PMCID: PMC1914816

Genes

DRD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.PMID 8808601Read ↗

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.Semantic proximity Read ↗

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A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).Semantic proximity Read ↗

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Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.Semantic proximity Read ↗

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.Semantic proximity Read ↗

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