title: Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
abstract: BACKGROUND
  Maturity-onset diabetes of the young, type 2 (MODY2) is caused by mutations in the glucokinase gene (GCK). The aim of our study was to determine the prevalence of GCK mutations in the Norwegian MODY Registry and to delineate the clinical phenotype of identified GCK mutation carriers.
  
  
  METHODS
  We screened 122 probands referred to the MODY Registry for mutations in GCK and studied extended families with MODY2.
  
  
  RESULTS
  We found 2 novel (S76Y and N231S) and 13 previously reported (V62A, G72R, L146R, R191W, A208T, M210K, Y215X, M235T, R275C, E339G, R377C, S453L, and IVS5+1G>C) GCK mutations in 23 probands and in their 33 family members. The prevalence of MODY2 was 12% in the Norwegian MODY Registry. The subjects with GCK mutations had features of mild diabetes. Yet, 15 of 56 MODY2 subjects were treated with oral drugs or insulin. Three subjects had retinopathy and one had macrovascular disease. Also, a limited number of cases had elevated fasting serum triglyceride values. Moreover, two GCK mutation carriers were diagnosed with type 1 diabetes.
  
  
  CONCLUSIONS
  According to our diagnostic screening of GCK in the MODY Registry, MODY2 is less prevalent than MODY3 in Norway but is likely to be underreported. Recognizing MODY2 in diabetic patients is important in order to prevent overtreatment. Finally, our study demonstrates the co-occurrence of MODY2 in families with type 1 or type 2 diabetes.
authors.affiliation: Section for Endocrinology, Institute of Medicine, University of Bergen, Bergen, Norway.
authors.forename: Jørn V
authors.initials: JV
authors.lastname: Sagen
authors.forename: Lise
authors.initials: L
authors.lastname: Bjørkhaug
authors.forename: Janne
authors.initials: J
authors.lastname: Molnes
authors.forename: Helge
authors.initials: H
authors.lastname: Raeder
authors.forename: Louise
authors.initials: L
authors.lastname: Grevle
authors.forename: Oddmund
authors.initials: O
authors.lastname: Søvik
authors.forename: Anders
authors.initials: A
authors.lastname: Molven
authors.forename: Pål R
authors.initials: PR
authors.lastname: Njølstad
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D008297:Male; D009664:Norway / Q000453:epidemiology; D010375:Pedigree; D015995:Prevalence; D012042:Registries / Q000706:statistics & numerical data
chemical_list: D005941:Glucokinase