Monogenic diabetes mellitus in Norway

Forfattere

  • Oddmund Søvika
  • Henrik Underthun Irgens
  • Janne Molnes
  • Jørn V. Sagena
  • Lise Bjørkhaug
  • Helge Ræder
  • Anders Molveng
  • Pål R. Njølstad

DOI:

https://doi.org/10.5324/nje.v23i1.1603

Sammendrag

Here, we review data on monogenic diabetes mellitus in Norway based on the Norwegian MODY Registry at Haukeland University Hospital, Bergen. This registry comprises established or suspected cases of maturity-onset diabetes of the young (MODY) referred to our laboratory for genetic testing. We also present data on neonatal diabetes, another group of monogenic diabetes. To date, we have genetically diagnosed nearly 500 MODY cases in Norway. Mutations in the HNF1A gene (MODY3) were detected in about 50% of families with clinical MODY. GCK-MODY (MODY2) was the second most prevalent type, but may be underreported. We have also found mutations in the monogenic genes ABCC8, CEL, HNF1B, HNF4A, INS, KCNJ11 and NEUROD1. Based on genetic screening in the Norwegian MODY Registry and HUNT2, we estimate the number of MODY cases in Norway to be at least 2500-5000. Founder effects may determine the geographical distribution of MODY mutations in Norway. The molecular genetic testing of MODY and neonatal diabetes is mandatory for correct diagnosis and prognosis as well as choice of therapy

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Nedlastinger

Publisert

2013-06-03

Hvordan referere

Søvika, O., Irgens, H. U., Molnes, J., Sagena, J. V., Bjørkhaug, L., Ræder, H., Molveng, A., & Njølstad, P. R. (2013). Monogenic diabetes mellitus in Norway. Norsk Epidemiologi, 23(1). https://doi.org/10.5324/nje.v23i1.1603

Utgave

Vol 23 Nr 1 (2013): Tema: Diabetes

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