Noncoding Variants in Intron 2 of <i>HK1</i> Associated With Hyperinsulinism With Variable Clinical Phenotype
Non-coding 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. Identifying these cases is important for clinical care as well as for assessing recurrence risk for families.
Authors
- Lauren Mitteer (ORCID: https://orcid.org/0009-0007-0624-4179)
- Christine A. Juliana (ORCID: https://orcid.org/0000-0002-4314-1407)
- Kara E. Boodhansingh (ORCID: https://orcid.org/0000-0003-4810-1372)
- Winnie Sigal
- Katherine Lord (ORCID: https://orcid.org/0009-0000-7719-9108)
- Tricia Bhatti (ORCID: https://orcid.org/0000-0001-6511-3514)
- Charles A. Stanley (ORCID: https://orcid.org/0000-0003-4881-9392)
- Arupa Ganguly (ORCID: https://orcid.org/0000-0003-4527-3216)
- Joshua Benjet
- Diva D De Leon
- Pan Chen
Institutions
- Children's Hospital of Philadelphia (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2026-03-07
- DOI
- https://doi.org/10.1210/clinem/dgag108
- Primary Topic
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Type
- article
- Field-Weighted Citation Impact
- 0.00