title: Three cases of Wolfram syndrome with different clinical aspects.
abstract: BACKGROUND
  Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations.
  
  
  METHODS
  The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified.
  
  
  CONCLUSIONS
  Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features.
authors.forename: Emine
authors.initials: E
authors.lastname: Çamtosun
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Şıklar
authors.forename: Pınar
authors.initials: P
authors.lastname: Kocaay
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
mesh_terms: D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D001523:Mental Disorders / Q000175:diagnosis* / Q000235:genetics; D009896:Optic Atrophy / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D014929:Wolfram Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein