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Licensed Unlicensed Requires Authentication Published by De Gruyter March 4, 2016

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

  • Shahab Noorian EMAIL logo , Shahram Savad and Davood Shah Mohammadi

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.


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

References

1. Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, et al. 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;43:435–40.10.1136/jmg.2005.034892Search in Google Scholar

2. Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (Wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998;7:2021–8.10.1093/hmg/7.13.2021Search in Google Scholar

3. Ghirardello S, Garrè ML, Rossi A, Maghnie M. The diagnosis of children with central diabetes insipidus pathology. J Pediatr Endocrinol Metab 2007;20:359–76.10.1515/JPEM.2007.20.3.359Search in Google Scholar

4. Najjar SS, Saikaly MG, Zaytoun GM, Abdelnoor A. Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndrome. Arch Dis Child 1985;60:823–8.10.1136/adc.60.9.823Search in Google Scholar

5. Fonseca SG, Burcin M, Gromada J, Urano F. Endoplasmic reticulum stress in beta cells and development of diabetes. Curr Opin Pharmacol 2009;9:763–70.10.1016/j.coph.2009.07.003Search in Google Scholar

6. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458–63.10.1016/S0140-6736(95)92473-6Search in Google Scholar

7. Norooziasl S, Javadinia SA. A case report of Wolfram syndrome. J Birjand Univ Med Sci 2013;20:102–7. [In Persian].Search in Google Scholar

8. Çamtosun E, Şıklar Z, Kocaay P, Ceylaner S, Flanagan SE, et al. Three cases of Wolfram syndrome with different clinical aspects. J Pediatr Endocrinol Metab 2015;28:433–8.10.1515/jpem-2014-0139Search in Google Scholar PubMed

9. Pitt K, James C, Kochar IS, Kapoor A, Jain S, et al. A single base-pair deletion in the WFS1 gene causes Wolfram syndrome. J Pediatr Endocrinol Metab 2011;24:389–91.10.1515/jpem.2011.215Search in Google Scholar PubMed

Received: 2015-2-1
Accepted: 2015-12-30
Published Online: 2016-3-4
Published in Print: 2016-5-1

©2016 by De Gruyter

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