A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome

Author:

Noorian Shahab,Savad Shahram,Mohammadi Davood Shah

Abstract

AbstractWolfram syndrome is a rare autosomal recessive neurodegenerative disorder, which is mostly caused by mutations in the

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. Three cases of Wolfram syndrome with different clinical aspects;J Pediatr Endocrinol Metab,2015

2. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene;J Med Genet,2006

3. Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndrome;Arch Dis Child,1985

4. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome;Lancet,1995

5. Endoplasmic reticulum stress in beta cells and development of diabetes;Curr Opin Pharmacol,2009

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