hrp0082s3.2 | Novel Insights into Monogenic Diabetes | ESPE2014

Neonatal Diabetes: New Genes, New Mechanisim, New Phenotypes

Ellard S

Recent years have seen significant progress towards defining the genetic aetiology of neonatal diabetes with >20 subtypes identified. It is likely that all cases of neonatal diabetes result from a single gene disorder since markers of autoimmunity associated with type 1 diabetes are rare in patients diagnosed before 6 months.Heterozygous activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the ...