PRDM9 Deficiency Identifies a Predominant Molecular Subgroup in Sporadic Hirschsprung Disease and Enables Blood-based Risk Stratification
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PRDM9 Deficiency Identifies a Predominant Molecular Subgroup in Sporadic Hirschsprung Disease and Enables Blood-based Risk Stratification

A 2026 Gastroenterology study links PRDM9 deficiency to ectopic DNA breaks, mosaic promoter deletions, and impaired enteric neuronal differentiation in sporadic Hirschsprung disease, while introducing a blood-based molecular score that improves case discrimination, especially when combined with polygenic risk.