Genetic and Clinical Characterisation of Congenital Hyperinsulinism: Identification of a Novel ABCC8 Variant
Authors' conclusion
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.
Study context
- Population
- Unrelated patients with clinically suspected congenital hyperinsulinism (CHI), Sher-i-Kashmir Institute of Medical Sciences, Srinagar
- Participants
- 6 unrelated patients
- Outcome
- Genetic spectrum and clinical characteristics
Methodological detailssingle-centre, Targeted 19-gene CHI panel by Sanger sequencing, with parental segregation analysis
- Single-centre
- Targeted 19-gene CHI panel by Sanger sequencing, with parental segregation analysis
Main finding
As reported in the abstract
- Likely pathogenic variants identified
- 3 patients (50%)
- ABCC8 variants
- n = 2
- KCNJ11 variant
- n = 1
- ABCC8 frameshift variant
- c.453del
- KCNJ11 missense variant
- c.107 T > A
- Mean age at presentation
- 24.2 days
- Parental consanguinity
- 3/6
- Presented with hypoglycemic seizures
- 3 patients (50%)
Observational data: associations, not effects.
Further findings
Treatment response and outcomes
- Responded to diazoxide
- 2 patients
- Diazoxide-unresponsive
- 4 patients
- Partial pancreatectomy in diazoxide-unresponsive
- 2
- Mean follow-up
- 22 months (range: 2-42 months)
Original publication
Genetic and Clinical Characterisation of Congenital Hyperinsulinism: Identification of a Novel ABCC8 Variant. Clin Endocrinol (Oxf). Published 4 January 2026. doi:10.
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