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

Year: 2024

Type: article

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.

Source: Clinical Genetics

DOI: 10.1111/cge.14657

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

Institutions: All India Institute of Medical Sciences, Madras Diabetes Research Foundation, Dr. Mohan's Diabetes Specialities Centre, University of Exeter

Language: English

Topic: Pancreatic function and diabetes

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,980