title: A novel mutation in mitochondrial DNA in a patient with diabetes, deafness and proteinuria.
abstract: Maternally inherited deafness and diabetes (MIDD) is characterised by a defect in insulin secretion and bilateral hearing impairment. The m.3243A>G mutation is the most reported in mitochondrial DNA (mtDNA) causing MIDD, although other, rare, mtDNA point mutations have also been mentioned. We report on a 28-year-old Caucasian woman with a history of diabetes, kidney disease, deafness, diarrhoea, myopathy and fatigue. The diagnosis of mitochondrial disease was made in this patient, which resulted from a novel 09155A>G mutation in the mtDNA. As far as we know, this mutation has never been described before as causing MIDD.
authors.affiliation: Department of Nephrology, VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: A Y
authors.initials: AY
authors.lastname: Adema
authors.forename: M C H
authors.initials: MC
authors.lastname: Janssen
authors.forename: J W
authors.initials: JW
authors.lastname: van der Heijden
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000209:etiology / Q000473:pathology; D006801:Humans; D024821:Metabolic Syndrome / Q000209:etiology; D008854:Microscopy, Electron; D008928:Mitochondria / Q000648:ultrastructure; D028361:Mitochondrial Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D017354:Point Mutation; D011507:Proteinuria / Q000209:etiology
chemical_list: D004272:DNA, Mitochondrial