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J Pediatr Endocrinol Metab. 2016 May 1;29(5):607-9. doi: 10.1515/jpem-2015-0045.

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

Abstract

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>A) in a 9-year-old boy with WS.

PMID:
26943604
DOI:
10.1515/jpem-2015-0045
[Indexed for MEDLINE]

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