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Title: Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
Author: Ellard, S.
Bellanné-Chantelot, C.
Hattersley, A.T.
European Molecular Genetics Quality Network (EMQN) MODY group
Keywords: Best practice
Maturity-onset diabetes of the young
Monogenic diabetes
Doenças Cardio e Cérebro-vasculares
Issue Date: 23-Feb-2008
Publisher: Springer
Citation: Diabetologia. 2008 Apr;51(4):546-53. Epub 2008 Feb 23
Abstract: AIMS/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.
Description: Member of the EMQN MODY group: Gisela Gaspar
Peer review: yes
ISSN: 0012-186X
Publisher Version:
Appears in Collections:DPSPDNT - Artigos em revistas internacionais

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