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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Hrsg. v. Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

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2191-0251
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Band 29, Heft 5

Hefte

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

Shahab Noorian
  • Korrespondenzautor
  • Department of Pediatric Endocrinology Metabolism, Bahonar Hospital, Alborz University of Medical sciences, Karaj, Iran
  • E-Mail
  • Weitere Artikel des Autors:
  • De Gruyter OnlineGoogle Scholar
/ Shahram Savad / Davood Shah Mohammadi
Online erschienen: 04.03.2016 | DOI: https://doi.org/10.1515/jpem-2015-0045

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.

Keywords: diabetes mellitus, optic atrophy, diabetes insipidus, hearing loss (DIDMOAD); novel mutation; WFS1 gene; Wolfram syndrome (WS)

References

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Artikelinformationen

Corresponding author: Shahab Noorian, Department of Pediatric Endocrinology Metabolism, Bahonar Hospital, Alborz University of Medical sciences, Karaj, Iran, E-mail:


Erhalten: 01.02.2015

Angenommen: 30.12.2015

Online erschienen: 04.03.2016

Erschienen im Druck: 01.05.2016


Quellenangabe: Journal of Pediatric Endocrinology and Metabolism, Band 29, Heft 5, Seiten 607–609, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2015-0045.

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