Publication:
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

No Thumbnail Available
Date
2012-01-01T00:00:00Z
Authors
Yuca, Sevil Ari
Rendtorff, Nanna Dahl
Boulahbel, Houda
Lodahl, Marianne
Tranebjaerg, Lisbeth
Cesur, YAŞAR
Dogan, Murat
Yilmaz, Cahide
Akgun, Cihangir
Acikgoz, Mehmet
Journal Title
Journal ISSN
Volume Title
Publisher
Research Projects
Organizational Units
Journal Issue

Metrics

Search on Google Scholar

Abstract
Wolfram syndrome, also named -DIDMOAD- (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c. 1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations. (C) 2011 Elsevier Masson SAS. All rights reserved.
Description
Keywords
Citation
Yuca S. A. , Rendtorff N. D. , Boulahbel H., Lodahl M., Tranebjaerg L., Cesur Y., Dogan M., Yilmaz C., Akgun C., Acikgoz M., -Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)-, EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.55, ss.37-42, 2012
Collections
Page Views

0

File Downloads

0

Sustainable Development Goals