The p.( <scp>Gly111Arg</scp> ) <i>ABCC8</i> Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community
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.
Authors
- Sarah Elizabeth Flanagan (ORCID: https://orcid.org/0000-0002-8670-6340)
- James T. Bennett (ORCID: https://orcid.org/0000-0003-2843-5594)
- Viswanathan Mohan (ORCID: https://orcid.org/0000-0001-5038-6210)
- Matthew N. Wakeling (ORCID: https://orcid.org/0000-0002-6542-9241)
- Vandana Jain (ORCID: https://orcid.org/0000-0002-6139-4686)
- Venkatesan Radha (ORCID: https://orcid.org/0000-0002-4281-0250)
Institutions
- University of Exeter (GB)
- Madras Diabetes Research Foundation (IN)
- Dr. Mohan's Diabetes Specialities Centre (IN)
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2024-11-27
- DOI
- https://doi.org/10.1111/cge.14657
- Primary Topic
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wellcome Trust
- Madras Diabetes Research Foundation