Hyperinsulinemic Hypoglycemia Associated with a Ca_V1.2 Variant with Mixed Gain- and Loss-of-Function Effects.

ABSTRACT: The voltage-dependent L-type calcium channel isoform Ca_V1.2 is critically involved in many physiological processes, e.g., in cardiac action potential formation, electromechanical coupling and regulation of insulin secretion by beta cells. Gain-of-function mutations in the calcium voltage-gated channel subunit alpha 1 C (CACNA1C) gene, encoding the Ca_V1.2 α₁-subunit, cause Timothy syndrome (TS), a multisystemic disorder that includes autism spectrum disorders and long QT (LQT) syndrome. Strikingly, TS patients frequently suffer from hypoglycemia of yet unproven origin. Using next-generation sequencing, we identified a novel heterozygous CACNA1C mutation in a patient with congenital hyperinsulinism (CHI) and associated hypoglycemic episodes. We

SUBMITTER: Kummer S 

PROVIDER: S-EPMC9332183 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature