The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community.

Authors :: Jain V
Radha V
Mohan V
Wakeling MN
Bennett JJ
Flanagan SE
Source :: Clinical genetics [Clin Genet] 2025 Mar; Vol. 107 (3), pp. 364-365. Date of Electronic Publication: 2024 Nov 27.
Publication Year :: 2025
Abstract: Loss-of-function ABCC8 variants are the commonest cause of congenital hyperinsulinism. On a systematic search of our databases, the p.(Gly111Arg) ABCC8 variant was identified in 26 individuals, of which 23 were from the Indian Agarwal community. Haplotype analysis subsequently confirmed that p.(Gly111Arg) is a founder variant in the Agarwal population.<br /> (© 2024 The Author(s). Clinical Genetics published by John Wiley & Sons Ltd.)

Subjects :: Humans
India
Mutation
Female
Genetic Predisposition to Disease
Male
Congenital Hyperinsulinism genetics
Congenital Hyperinsulinism diagnosis
Sulfonylurea Receptors genetics
Founder Effect
Haplotypes genetics

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