Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype
Authors' conclusion
Noncoding variants in intron 2 of the HK1 gene have now been associated with HI in a growing number of cases. Our findings suggest that a significant proportion of individuals with negative genetics in genes currently known to be associated with HI may harbor HK1 intron 2 variants.
Study context
- Population
- Individuals with genetics-negative congenital hyperinsulinism (HI)
- Participants
- 281 individuals
- Outcome
- Non-coding variants in a 350 bp region of HK1 intron 2
Main finding
As reported in the abstract
Non-coding HK1 intron 2 variants
Individuals with HK1 intron 2 variants
18/281, 6.4%
Unique non-coding variants identified
16
Further findings
Inheritance of HK1 variant
- Inherited from a parent (2 maternal, 5 paternal); 2 parents known affected with HI
- 7/18, 39%
- De novo
- 9/18, 50%
Clinical phenotype
- Age at presentation of HI
- day of life 1 to 21 months
- Diazoxide-responsive HI
- 7/18, 39%
- Diazoxide unresponsive
- 11/18, 61%
- Underwent pancreatectomy (ages 6 months to 3 years)
- 5
Original publication
Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype. J Clin Endocrinol Metab. Published 10 March 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →