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Article

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.

BMC endocrine disorders - 21 Apr 2021

Gong Yingying, Xiong Li, Li Xiujun, Su Lei, Xiao Haipeng

Abstract excerpt

BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Mutations in Wolfram syndrome 1 (WFS1) gene may cause dysregulated endoplasmic reticulum (ER)-stress and cell apoptosis, contributing to WS symptoms. The aim of this study was to identify the molecular etiology of a case of WS and to explore the functional...

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Identifiers

PMID: 33879153
DOI: 10.1186/s12902-021-00748-z
PMCID: PMC8059287

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