1 research outputs found
Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the β-cell ATP-sensitive potassium channel, a key component of the glucose-stimulated insulin secretion pathway. Mutations in the two genes cause dysregulated insulin secretion; inactivating mutations cause an oversecretion of insulin, leading to congenital hyperinsulinism, whereas activating mutations cause the opposing phenotype, diabetes. This review focuses on variants identified in ABCC8 and KCNJ11, the phenotypic spectrum and the treatment implications for individuals with pathogenic variants.This article is freely available via Open Access. Click on the publisher URL to access it via the publisher's site.P30 DK020595/NH/NIH HHS/United States
K23 DK094866/NH/NIH HHS/United States
R03 DK103096/NH/NIH HHS/United States
1-11-CT-41/American Diabetes Association/International
R01 DK104942/DK/NIDDK NIH HHS/United States
WT_/Wellcome Trust/United Kingdom
WT098395/Z/12/Z/WT_/Wellcome Trust/United Kingdom
UL1 TR000430/NH/NIH HHS/United States
P30 DK020595/DK/NIDDK NIH HHS/United States
UL1 TR000430/TR/NCATS NIH HHS/United States
1-17-JDF-008/American Diabetes Association/International
105636/Z/14/Z/WT_/Wellcome Trust/United Kingdom
110675/European Association for the Study of Diabetes-Novo Nordisk/International
16/0005407/DUK_/Diabetes UK/United Kingdom
R01 DK104942/NH/NIH HHS/United States
R03 DK103096/DK/NIDDK NIH HHS/United States
K23 DK094866/DK/NIDDK NIH HHS/United Statespublished version, accepted version (12 month embargo), submitted versio