Update of variants identified in the pancreatic β‐cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

作者：Elisa De Franco, Cécile Saint‐Martin, Klaus Brusgaard, Amy E. Knight Johnson, Lydia Aguilar‐Bryan, Pamela Bowman, Jean‐Baptiste Arnoux, Annette Rønholt Larsen, May Sanyoura, Siri Atma W. Greeley, Raúl Calzada‐León, Bradley Harman, Jayne Houghton, Elisa Nishimura‐Meguro, Thomas W. Laver, Sian Ellard, Daniela del Gaudio, Henrik Thybo Christesen, Christine Bellanné‐Chantelot, Sarah E. Flanagan · 发表于：Human Mutation · 年份：2020 · DOI：10.1002/humu.23995 · 被引用次数：183 · 研究领域：Pancreatic function and diabetes、Hyperglycemia and glycemic control in critically ill and hospitalized patients、Diabetes Management and Research

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.