ArticleThe Journal of clinical endocrinology and metabolism2026
Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype.
Article in The Journal of clinical endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
contextNoncoding variants in hexokinase 1 (HK1) were first associated with congenital hyperinsulinism (HI) in a large family with diazoxide-responsive HI in 2008. Since then, additional cases have been reported in the literature with noncoding variants in HK1 associated with variable HI phenotypes.
methodsWe sequenced a 350 bp region in intron 2 of HK1 in 281 individuals with genetics-negative HI to identify additional cases related to non-coding HK1 variants and to characterize the clinical features of these cases.
resultsWe identified 16 unique non-coding variants in intron 2 of HK1 in 18 individuals with genetics-negative HI (18/281, 6.4%). In 7 cases (7/18, 39%), the HK1 variant was inherited from a parent (2 maternal, 5 paternal); 2 are known to be affected with HI. In 9 cases, the HK1 variant was de novo (9/18, 50%). The age of presentation of HI ranged from day of life 1 to 21 months of age. Seven cases had diazoxide-responsive HI (7/18, 39%). Eleven cases were diazoxide unresponsive (11/18, 61%); 5 underwent pancreatectomy at ages ranging from 6 months to 3 years of age.
conclusionsNoncoding 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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.