[From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)]
Publication year
2002Source
Nederlands Tijdschrift voor Geneeskunde, 146, 21, (2002), pp. 985-987ISSN
Publication type
Article / Letter to editor

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Organization
Otorhinolaryngology
Journal title
Nederlands Tijdschrift voor Geneeskunde
Volume
vol. 146
Issue
iss. 21
Page start
p. 985
Page end
p. 987
Subject
Hearing and Communication Disorders; Gehoor en communicatieAbstract
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.
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- Faculty of Medical Sciences [80039]
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