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Article

Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism.

Clinical genetics - 1 May 2024

Wang Ping, Liao Hong, Wang Quyou, Xie Hanbing, Xu Bocheng, Xiang Qinqin, Wang He, Yang Mei, Liu Shanling

Abstract excerpt

Congenital hyperinsulinism (CHI; OMIM: 256450) is characterized by persistent insulin secretion despite severe hypoglycemia. The most common causes are variants in the ATP-binding cassette subfamily C member 8(ABCC8) and potassium inwardly-rectifying channel subfamily J member 11(KCNJ11) genes. These encode ATP-sensitive potassium (KATP) channel subunit sulfonylurea receptor 1 (SUR1) and inwardly rectifying...

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PMID: 38225536
DOI: 10.1111/cge.14484

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