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Article

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

European journal of human genetics : EJHG - 1 Mar 2013

Haghighi Amirreza, Haghighi Alireza, Setoodeh Aria, Saleh-Gohari Nasrollah, Astuti Dewi, Barrett Timothy G

Abstract excerpt

Wolfram syndrome (WFS) is a neurodegenerative genetic condition characterized by juvenile-onset of diabetes mellitus and optic atrophy. We studied clinical features and the molecular basis of severe WFS (neurodegenerative complications) in two consanguineous families from Iran. A clinical and molecular genetic investigation was performed in the affected and healthy members of two families. The clinical diagnosis...

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Identifiers

PMID: 22781099
DOI: 10.1038/ejhg.2012.154
PMCID: PMC3573194

Genes

WFS1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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