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Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA

2026-01-15 genetic and genomic medicine Title + abstract only
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A substantial proportion of individuals with a well-defined monogenic disorder remain without a genetic diagnosis. Low-level mosaic pathogenic variants are increasingly recognised as an underappreciated cause of monogenic disease but are technically challenging to detect, particularly in organ-specific conditions when affected tissue is inaccessible. We systematically investigated low-level mosaic variants in individuals with congenital hyperinsulinism (CHI: n=1,252) or neonatal diabetes (NDM: n...

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