title: [From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)].
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.
authors.affiliation: Universitair Medisch Centrum St Radboud, afd. KNO-heelkunde, Postbus 9101, 6500 HB Nijmegen. r.pennings@kno.azn.nl
authors.forename: R J E
authors.initials: RJ
authors.lastname: Pennings
authors.forename: L D
authors.initials: LD
authors.lastname: Dikkeschei
authors.forename: C W R J
authors.initials: CW
authors.lastname: Cremers
authors.forename: J M W
authors.initials: JM
authors.lastname: van den Ouweland
mesh_terms: D002894:Chromosomes, Human, Pair 4; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009896:Optic Atrophy / Q000235:genetics*; D014929:Wolfram Syndrome / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein
vernacular_title: Van gen naar ziekte; mutaties in het WFS1-gen als oorzaak van juveniele type-1-diabetes mellitus met opticusatrofie (Wolfram-syndroom).