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Article

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

Clinical genetics - 1 Mar 2025

Jain Vandana, Radha Venkatesan, Mohan Viswanathan, Wakeling Matthew N, Bennett Jasmin J, Flanagan Sarah E

Abstract excerpt

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.

Topics

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Congenital Hyperinsulinism
Founder Effect
ABCC8 gene
Genetic Predisposition to Disease
Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sulfonylurea Receptors

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Identifiers

PMID: 39601258
DOI: 10.1111/cge.14657
PMCID: PMC11790514

Genes

ABCC8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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