ArticleHormone research in paediatrics2013
Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.
Article in Hormone research in paediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis.PloS one · 2021Pooled it
- De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.European journal of human genetics : EJHG · 2019Trial
- [Clinical practice guidelines "Congenital hyperinsulinism"].Problemy endokrinologii · 2026Review
- Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype.The Journal of clinical endocrinology and metabolism · 2026Article
- Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease.Medical sciences (Basel, Switzerland) · 2025Review
- Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.Genome medicine · 2025Article
- Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Review
- Integrated epigenome, whole genome sequence and metabolome analyses identify novel multi-omics pathways in type 2 diabetes: a Middle Eastern study.BMC medicine · 2023Article
- Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism.Current opinion in pediatrics · 2023Review
- Management of Axillary Contracture in Poland Syndrome: Differentiating Fibrous Band and Skin for Optimal Release.Journal of clinical medicine · 2023Article
- Article
- Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.Nature genetics · 2022Article
- Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.European journal of endocrinology · 2022Article
- Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes.Genes · 2022Review
- Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.Hormone research in paediatrics · 2022Article
- Clinical and genetic characteristics of patients with congenital hyperinsulinism in 21 non-consanguineous families from Serbia.European journal of pediatrics · 2021Article
- A narrative review of Poland's syndrome: theories of its genesis, evolution and its diagnosis and treatment.Translational pediatrics · 2021Review
- CRISPR/Cas9Frontiers in endocrinology · 2021Article
- Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.Reviews in endocrine & metabolic disorders · 2020Review
- Update of variants identified in the pancreatic β-cell KHuman mutation · 2020Review
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
Abstract
BACKGROUND/
aimsIn a family with congenital hyperinsulinism (HI), first described in the 1950s by McQuarrie, we examined the genetic locus and clinical phenotype of a novel form of dominant HI.
methodsWe surveyed 25 affected individuals, 7 of whom participated in tests of insulin dysregulation (24-hour fasting, oral glucose and protein tolerance tests). To identify the disease locus and potential disease-associated mutations we performed linkage analysis, whole transcriptome sequencing, whole genome sequencing, gene capture, and next generation sequencing.
resultsMost affecteds were diagnosed with HI before age one and 40% presented with a seizure. All affecteds responded well to diazoxide. Affecteds failed to adequately suppress insulin secretion following oral glucose tolerance test or prolonged fasting; none had protein-sensitive hypoglycemia. Linkage analysis mapped the HI locus to Chr10q21-22, a region containing 48 genes. Three novel noncoding variants were found in hexokinase 1 (HK1) and one missense variant in the coding region of DNA2.
conclusionDominant, diazoxide-responsive HI in this family maps to a novel locus on Chr10q21-22. HK1 is the more attractive disease gene candidate since a mutation interfering with the normal suppression of HK1 expression in beta-cells could readily explain the hypoglycemia phenotype of this pedigree.
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Registered trials
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