Article
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Human mutation - 1 May 2020
De Franco Elisa, Saint-Martin Cécile, Brusgaard Klaus, Knight Johnson Amy E, Aguilar-Bryan Lydia, Bowman Pamela, Arnoux Jean-Baptiste, Larsen Annette Rønholt, Sanyoura May, Greeley Siri Atma W, Calzada-León Raúl, Harman Bradley, Houghton Jayne A L, Nishimura-Meguro Elisa, Laver Thomas W, Ellard Sian, Del Gaudio Daniela, Christesen Henrik Thybo, Bellanné-Chantelot Christine, Flanagan Sarah E
Abstract excerpt
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...
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