Genetic and Clinical Characterisation of Congenital Hyperinsulinism: Identification of a Novel <i>ABCC8</i> Variant
This study documents a likely novel ABCC8 pathogenic variant from a region with limited prior data on CHI, enhancing global understanding of its genetic diversity. Our findings emphasize the importance of integrating genetic testing into standard diagnostic protocols for timely and tailored interventions. The main limitations of this study include the use of Sanger sequencing as the sole genetic testing approach and the absence of functional validation of the identified variants.
Authors
- Mohd Rafi Mir
- Idrees Ayoub Shah (ORCID: https://orcid.org/0000-0002-5179-6665)
- Ajaz Qadir (ORCID: https://orcid.org/0000-0003-1390-2102)
- Venkatesan Radha
- Javid A. Sofi
- Shahid Ahmad Ganie
- Mohd Ashraf Ganie
- Viswanathan Mohan
Institutions
- Sher-i-Kashmir Institute of Medical Sciences (IN)
- Madras Diabetes Research Foundation (IN)
- Dr. Mohan's Diabetes Specialities Centre (IN)
Publication Details
- Journal
- Clinical Endocrinology
- Published
- 2026-01-04
- DOI
- https://doi.org/10.1111/cen.70091
- Primary Topic
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Indian Council of Medical Research