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Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder, which is mostly caused by mutations in the  WFS1  gene. The  WFS1  gene product, which is called wolframin, is thought to regulate the function of endoplasmic reticulum. The endoplasmic reticulum has a critical role in protein folding and material transportation within the cell or to the surface of the cell. Identification of new mutations in  WFS1  gene will unravel the molecular pathology of WS. The aim of this case report study is to describe a novel mutation in exon 4 of the  WFS1  gene (c.330C&gt;A) in a 9-year-old boy with WS.

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