[From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)]

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Title:	[From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)]
Author(s):	Pennings, R.J.E. ; Dikkeschei, L.D.; Cremers, C.W.R.J. ; Ouweland, J.M.W. van den
Publication year:	2002
Source:	Nederlands Tijdschrift voor Geneeskunde, vol. 146, iss. 21, (2002), pp. 985-987
ISSN:	0028-2162
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/144601
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Subject:	Hearing and Communication Disorders Gehoor en communicatie
Organization:	Otorhinolaryngology
Journal title:	Nederlands Tijdschrift voor Geneeskunde
Volume:	vol. 146
Issue:	iss. 21
Page start:	p. 985
Page end:	p. 987
Abstract:	Wolfram syndrome patients are mainly characterised by juvenile onset diabetes mellitus and optic atrophy. A synonym is the acronym DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy, deafness. Diabetes insipidus and sensorineural high-frequency hearing impairment are important additional features. This rare autosomal recessively inherited neurodegenerative syndrome is caused by mainly inactivating mutations in the WFS1 gene. It is located at chromosome 4p16 and encodes wolframin, a transmembrane protein. No function has yet been ascribed to this protein.