Functional evaluation of pancreatic islets from patients with Beckwith–Wiedemann syndrome and congenital hyperinsulinism
Main findingResult — go to the resultKCNQ1 expression, fold reduction 3-foldAuthors' conclusion
Our expression analysis and functional evaluation of islets isolated from BWS-HI patients reveal the spectrum of insulin secretion responses found across BWS etiologies and suggest a potential role for loss of KCNQ1 expression in the complex pathophysiology responsible for the hyperinsulinism in BWS.
Study context
- Population
- Infants with severe hyperinsulinism (HI) and comorbid Beckwith-Wiedemann Syndrome (BWS) who required pancreatectomy for intractable hypoglycemia
- Comparison
- BWS-HI islets vs KATPHI islets and normal human islets
- Outcome
- Islet function and gene expression
Methodological detailscase series, Molecular testing for BWS by SNP array and chromosome 11p15 methylation analysis, Islet insulin secretion assessed by perifusion and cytosolic Ca2+ measurements
- Case series
- Molecular testing for BWS by SNP array and chromosome 11p15 methylation analysis
- Islet insulin secretion assessed by perifusion and cytosolic Ca2+ measurements
Main finding
As reported in the abstract
KCNQ1 expression, fold reduction
3-fold
P = 4.5 × 10-7
Original publication
Functional evaluation of pancreatic islets from patients with Beckwith–Wiedemann syndrome and congenital hyperinsulinism. J Clin Endocrinol Metab. Published 15 February 2026. doi:10.
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