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Article

Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.

Acta diabetologica - 1 Dec 2016

Ghahraman Martha, Abbaszadegan Mohammad Reza, Vakili Rahim, Hosseini Sousan, Fardi Golyan Fatemeh, Ghaemi Nosrat, Forghanifard Mohammad Mahdi

Abstract excerpt

AIMS: Wolfram syndrome is a rare neurodegenerative disorder with an autosomal recessive pattern of inheritance characterized by various clinical manifestations. The related gene, WFS1, encodes a transmembrane glycoprotein, named wolframin. Genetic analyses demonstrated that mutations in this gene are associated with WS type 1. Our aim in this study was to sequence WFS1 coding region in Iranian Wolfram syndrome...

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Source

Identifiers

PMID: 27412528
DOI: 10.1007/s00592-016-0884-7

Genes

WFS1

Variants

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

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