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Article

Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.

Clinical genetics - 1 Jun 2004

Domènech E, Gómez-Zaera M, Nunes V

Abstract excerpt

Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy. Patients with WS frequently develop deafness, diabetes insipidus, renal tract abnormalities, and diverse psychiatric illnesses, among others. A gene responsible for WS was identified on 4p16.1 (WFS1). It encodes a putative 890 amino acid transmembrane protein...

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Identifiers

PMID: 15151504
DOI: 10.1111/j.1399-0004.2004.00249.x

Genes

WFS1

Variants

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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Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.PMID 15151504Read ↗

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Molecular characterization of WFS1 in patients with Wolfram syndrome.Semantic proximity Read ↗

Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease.Semantic proximity Read ↗

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.Semantic proximity Read ↗

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Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.Semantic proximity Read ↗

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.Semantic proximity Read ↗

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