Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

Elisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, Amy E. Knight Johnson, Lydia Aguilar-Bryan, Pamela Bowman, Jean Baptiste Arnoux, Annette Rønholt Larsen, Sanyoura May, Siri Atma W. Greeley, Raúl Calzada-León, Bradley Harman, Jayne A.L. Houghton, Elisa Nishimura-Meguro, Thomas W. Laver, Sian Ellard, Daniela del Gaudio, Henrik Thybo Christesen, Christine Bellanné-Chantelot, Sarah E. Flanagan*

*Kontaktforfatter for dette arbejde

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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Abstrakt

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.

OriginalsprogEngelsk
TidsskriftHuman Mutation
Vol/bind41
Udgave nummer5
Sider (fra-til)884-905
ISSN1059-7794
DOI
StatusUdgivet - maj 2020

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