ArticleThe journal of pathology. Clinical research2020
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism.
Article in The journal of pathology. Clinical research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- International Guidelines for the Diagnosis and Management of Hyperinsulinism.Hormone research in paediatrics · 2024Guideline
- Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.Journal of the Endocrine Society · 2026Article
- Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.The Journal of clinical endocrinology and metabolism · 2025Article
- Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.PloS one · 2025Article
- Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism.Current opinion in pediatrics · 2023Review
- Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus.Frontiers in endocrinology · 2023Review
- Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.European journal of endocrinology · 2022Article
- Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism-The UK Perspective.Journal of the Endocrine Society · 2022Article
- Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families.Orphanet journal of rare diseases · 2022Review
- Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease.Frontiers in endocrinology · 2022Review
- Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.Hormone research in paediatrics · 2022Article
- Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.European journal of endocrinology · 2021Article
- Article
- Update of variants identified in the pancreatic β-cell KHuman mutation · 2020Review
- Delayed Resolution of Feeding Problems in Patients With Congenital Hyperinsulinism.Frontiers in endocrinology · 2020Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Congenital hyperinsulinism (CHI) causes dysregulated insulin secretion which can lead to life-threatening hypoglycaemia if not effectively managed. CHI can be sub-classified into three distinct groups: diffuse, focal and mosaic pancreatic disease. Whilst the underlying causes of diffuse and focal disease have been widely characterised, the genetic basis of mosaic pancreatic disease is not known. To gain new insights into the underlying disease processes of mosaic-CHI we studied the islet tissue histopathology derived from limited surgical resection from the tail of the pancreas in a patient with CHI. The underlying genetic aetiology was investigated using a combination of high depth next-generation sequencing, microsatellite analysis and p57kip2 immunostaining. Histopathology of the pancreatic tissue confirmed the presence of a defined area associated with marked islet hypertrophy and a cytoarchitecture distinct from focal CHI but compatible with mosaic CHI localised to a discrete region within the pancreas. Analysis of DNA extracted from the lesion identified a de novo mosaic ABCC8 mutation and mosaic paternal uniparental disomy which were not present in leukocyte DNA or the surrounding unaffected pancreatic tissue. This study provides the first description of two independent disease-causing somatic genetic events occurring within the pancreas of an individual with localised mosaic CHI. Our findings increase knowledge of the genetic causes of islet disease and provide further insights into the underlying developmental changes associated with β-cell expansion in CHI.
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