A Novel Nonsense Mutation in the Wfs1 Gene Causes the Wolfram Syndrome

A Novel Nonsense Mutation in the Wfs1 Gene Causes the Wolfram Syndrome Publisher Pubmed

Noorian S¹ ; Savad S² ; Mohammadi DS³

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1. Department of Pediatric Endocrinology Metabolism, Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran
2. Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Urology, Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran

Source: Journal of Pediatric Endocrinology and Metabolism Published:2016

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. © 2016 by De Gruyter 2016.

2. Clinical and Molecular Assessment of 13 Iranian Families With Wolfram Syndrome, Endocrine (2019)

3. Molecular Investigation of Wfs1 Gene Exon 8 in Iranian Patients With Wolfram Syndrome, International Journal of Diabetes in Developing Countries (2016)

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Style	Citing Format
MLA	Noorian S, Savad S, Mohammadi DS. "A Novel Nonsense Mutation in the Wfs1 Gene Causes the Wolfram Syndrome." Journal of Pediatric Endocrinology and Metabolism, vol. 29, no. 5, 2016, pp. 607-609.
APA	Noorian S, Savad S, Mohammadi DS (2016). A Novel Nonsense Mutation in the Wfs1 Gene Causes the Wolfram Syndrome. Journal of Pediatric Endocrinology and Metabolism, 29(5), 607-609.
Chicago	Noorian S, Savad S, Mohammadi DS. "A Novel Nonsense Mutation in the Wfs1 Gene Causes the Wolfram Syndrome." Journal of Pediatric Endocrinology and Metabolism 29, no. 5 (2016): 607-609.
Harvard	Noorian S, Savad S, Mohammadi DS (2016) 'A Novel Nonsense Mutation in the Wfs1 Gene Causes the Wolfram Syndrome', Journal of Pediatric Endocrinology and Metabolism, 29(5), pp. 607-609.
Vancouver	Noorian S, Savad S, Mohammadi DS. A Novel Nonsense Mutation in the Wfs1 Gene Causes the Wolfram Syndrome. Journal of Pediatric Endocrinology and Metabolism. 2016;29(5):607-609.
BibTex	@article{ author = {Noorian S and Savad S and Mohammadi DS}, title = {A Novel Nonsense Mutation in the Wfs1 Gene Causes the Wolfram Syndrome}, journal = {Journal of Pediatric Endocrinology and Metabolism}, volume = {29}, number = {5}, pages = {607-609}, year = {2016} }
RIS	TY - JOUR AU - Noorian S AU - Savad S AU - Mohammadi DS TI - A Novel Nonsense Mutation in the Wfs1 Gene Causes the Wolfram Syndrome JO - Journal of Pediatric Endocrinology and Metabolism VL - 29 IS - 5 SP - 607 EP - 609 PY - 2016 ER -

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