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

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dc.contributor.authorYuca, Sevil Ari
dc.contributor.authorRendtorff, Nanna Dahl
dc.contributor.authorBoulahbel, Houda
dc.contributor.authorLodahl, Marianne
dc.contributor.authorTranebjaerg, Lisbeth
dc.contributor.authorCesur, YAŞAR
dc.contributor.authorDogan, Murat
dc.contributor.authorYilmaz, Cahide
dc.contributor.authorAkgun, Cihangir
dc.contributor.authorAcikgoz, Mehmet
dc.contributor.institutionauthorCESUR, YAŞAR
dc.date.accessioned2020-10-29T21:49:17Z
dc.date.available2020-10-29T21:49:17Z
dc.date.issued2012-01-01T00:00:00Z
dc.description.abstractWolfram 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.
dc.identifier.citationYuca 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
dc.identifier.doi10.1016/j.ejmg.2011.08.005
dc.identifier.scopus84857190126
dc.identifier.urihttp://hdl.handle.net/20.500.12645/26427
dc.identifier.wosWOS:000307539000008
dc.titleRapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)
dc.typeArticle
dspace.entity.typePublication
local.avesis.id9dda6cbd-f559-409a-ae87-2bc999537df9
local.publication.goal03 - Sağlık ve Kaliteli Yaşam
local.publication.isinternational1
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relation.isGoalOfPublication.latestForDiscovery9c198c48-b603-4e2f-8366-04edcfc1224c
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