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

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

doi:10.1111/cge.14657

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

Clin Genet. 2024 Nov 27. doi: 10.1111/cge.14657. Online ahead of print.

Authors

Vandana Jain¹, Venkatesan Radha², Viswanathan Mohan³, Matthew N Wakeling⁴, Jasmin J Bennett⁴, Sarah E Flanagan⁴

Affiliations

¹ Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, Delhi, India.
² Department of Molecular Genetics, Madras Diabetes Research Foundation (MDRF), Chennai, Tamil Nadu, India.
³ Department of Diabetology, MDRF & Dr. Mohan's Diabetes Specialities Centre, Chennai, India.
⁴ Department of Clinical and Biomedical Science, University of Exeter, Exeter, UK.

PMID: 39601258
DOI: 10.1111/cge.14657

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.

Keywords: CHI; India; founder variant; hyperinsulinism.

Grants and funding

223187/Z/21/Z/WT_/Wellcome Trust/United Kingdom