ArticleJournal of medical genetics2016
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- International Guidelines for the Diagnosis and Management of Hyperinsulinism.Hormone research in paediatrics · 2024Guideline
- Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome.The Journal of clinical endocrinology and metabolism · 2026Article
- Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism.The Journal of clinical endocrinology and metabolism · 2026Article
- Potassium channel-targeted therapy in reducing vascular complications in diabetes mellitus: novel insights.Frontiers in pharmacology · 2026Review
- Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.The Journal of clinical endocrinology and metabolism · 2025Article
- Epigenetic memory as crucial contributing factor in directing the differentiation of human iPSC into pancreatic β-cells in vitro.Cell and tissue research · 2025Review
- Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.Orphanet journal of rare diseases · 2024Article
- Approach to the Neonate With Hypoglycemia.The Journal of clinical endocrinology and metabolism · 2024Review
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.Histology and histopathology · 2024Review
- Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes.Journal of pediatric genetics · 2024Article
- A rare case of extremely low birth weight infant with Beckwith-Wiedemann syndrome.International journal of surgery case reports · 2024Article
- Article
- Case Report: The importance of genetic counseling for families with hyperinsulinism.Frontiers in pediatrics · 2024Article
- Structure-Function Analysis of p57KIP2 in the Human Pancreatic Beta Cell Reveals a Bipartite Nuclear Localization Signal.Endocrinology · 2023Article
- Hypoglycemia in Children: Major Endocrine-Metabolic Causes and Novel Therapeutic Perspectives.Nutrients · 2023Review
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- A selective nonpeptide somatostatin receptor 5 agonist effectively decreases insulin secretion in hyperinsulinism.The Journal of biological chemistry · 2023Article
- Article
- Syndromic forms of congenital hyperinsulinism.Frontiers in endocrinology · 2023Review
- Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.European journal of endocrinology · 2022Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundCongenital hyperinsulinism (HI) can have monogenic or syndromic causes. Although HI has long been recognised to be common in children with Beckwith-Wiedemann syndrome (BWS), the underlying mechanism is not known.
methodsWe characterised the clinical features of children with both HI and BWS/11p overgrowth spectrum, evaluated the contribution of KATP channel mutations to the molecular pathogenesis of their HI and assessed molecular pathogenesis associated with features of BWS.
resultsWe identified 28 children with HI and BWS/11p overgrowth from 1997 to 2014. Mosaic paternal uniparental isodisomy for chromosome 11p (pUPD11p) was noted in 26/28 cases. Most were refractory to diazoxide treatment and half required subtotal pancreatectomies. Patients displayed a wide range of clinical features from classical BWS to only mild hemihypertrophy (11p overgrowth spectrum). Four of the cases had a paternally transmitted KATP mutation and had a much more severe HI course than patients with pUPD11p alone.
conclusionsWe found that patients with pUPD11p-associated HI have a persistent and severe HI phenotype compared with transient hypoglycaemia of BWS/11p overgrowth patients caused by other aetiologies. Testing for pUPD11p should be considered in all patients with persistent congenital HI, especially for those without an identified HI gene mutation.
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Registered trials
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