Ellard, S.Bellanné-Chantelot, C.Hattersley, A.T.European Molecular Genetics Quality Network (EMQN) MODY group2011-11-092011-11-092008-02-23Diabetologia. 2008 Apr;51(4):546-53. Epub 2008 Feb 230012-186Xdoi:10.1007/s00125-008-0942-yhttp://hdl.handle.net/10400.18/314Member of the EMQN MODY group: Gisela GasparAIMS/HYPOTHESIS: Mutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations result in stable, mild fasting hyperglycaemia. A progressive insulin secretory defect is seen in patients with mutations in the HNF1A and HNF4A genes encoding the transcription factors hepatocyte nuclear factor-1 alpha and -4 alpha. A molecular genetic diagnosis often changes management, since patients with GCK mutations rarely require pharmacological treatment and HNF1A/4A mutation carriers are sensitive to sulfonylureas. These monogenic forms of diabetes are often misdiagnosed as type 1 or 2 diabetes. Best practice guidelines for genetic testing were developed to guide testing and reporting of results.engBest practiceGCKHNF1AHNF4AMaturity-onset diabetes of the youngMODYMonogenic diabetesDoenças Cardio e Cérebro-vascularesjournal article