A novel mutation in mitochondrial DNA in a patient with diabetes, deafness and proteinuria

Neth J Med. 2016 Dec;74(10):455-457.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Deafness / complications
  • Deafness / diagnosis*
  • Deafness / genetics
  • Deafness / pathology
  • Diabetes Mellitus, Type 2 / complications
  • Diabetes Mellitus, Type 2 / diagnosis*
  • Diabetes Mellitus, Type 2 / genetics
  • Diabetes Mellitus, Type 2 / pathology
  • Female
  • Glomerulosclerosis, Focal Segmental / etiology
  • Glomerulosclerosis, Focal Segmental / pathology
  • Humans
  • Metabolic Syndrome / etiology
  • Microscopy, Electron
  • Mitochondria / ultrastructure
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / pathology
  • Mutation*
  • Point Mutation
  • Proteinuria / etiology

Substances

  • DNA, Mitochondrial

Supplementary concepts

  • Noninsulin-dependent diabetes mellitus with deafness