Wolfram syndrome

Definition:

Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 and 2) are recognized, each with its own subset of variable symptoms, and resulting from mutations in the WFS1 and CISD2 genes, respectively. The WFS1 encodes an endoplasmic reticulum membrane-embedded protein. ERIS, the protein that CISD2 encodes, also localizes to the endoplasmic reticulum.

References:

[1]. L Rigoli, et al. Wolfram syndrome and WFS1 gene. Clin Genet. 2011 Feb;79(2):103-17. [Content Brief]

[2]. R Medlej, et al. Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinol Metab. 2004 Apr;89(4):1656-61. [Content Brief]

[3]. Yi-Fan Chen, et al. A role for the CISD2 gene in lifespan control and human disease. Ann N Y Acad Sci. 2010 Jul;1201:58-64. [Content Brief]

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