Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
Por:
De Franco E., Saint-Martin C., Brusgaard K., Knight Johnson A.E., Aguilar-Bryan L., Bowman P., Arnoux J.-B., Larsen A.R., May S., Greeley S.A.W., Calzada-León R., Harman B., Houghton J.A.L., Nishimura-Meguro E., Laver T.W., Ellard S., del Gaudio D., Christesen H.T., Bellanné-Chantelot C., Flanagan S.E.
Publicada:
1 ene 2020
Resumen:
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the ß-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. © 2020 The Authors. Human Mutation published by Wiley Periodicals, Inc.
Filiaciones:
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom
Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark
Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, IL, United States
Pacific Northwest Research Institute, Seattle, WA, United States
Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, Paris, France
Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark
Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, Kovler Diabetes Center, University of Chicago, Chicago, IL, United States
Pediatric Endocrinology, Endocrine Service, National Institute for Pediatrics, Mexico City, Mexico
Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom
Department of Pediatric Endocrinology, Children's Hospital, National Medical Center XXI Century, Instituto Mexicano del Seguro Social, Mexico City, Mexico, Mexico
Odense Pancreas Center, Odense University Hospital, Odense, Denmark
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