Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
E De Franco, C Saint‐Martin, K Brusgaard… - Human …, 2020 - Wiley Online Library
E De Franco, C Saint‐Martin, K Brusgaard, AE Knight Johnson, L Aguilar‐Bryan, P Bowman…
Human mutation, 2020•Wiley Online LibraryThe 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 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 …
Abstract
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.
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