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

MedXY Editorial Team•Jun 10, 2026•Gastroenterology
mosaic promoter deletionspolygenic risk scorePRDM9

Highlights

A large multi-platform study of sporadic Hirschsprung disease (HSCR) identified a predominant molecular subgroup, affecting 79.6% of patients, characterized by coordinated repression of neurogenesis-related transcriptional programs.

PRDM9 emerged as a mechanistic candidate: it was downregulated in aganglionic colon, showed promoter hypermethylation, and its perturbation in zebrafish, mice, and human induced pluripotent stem cell-derived enteric neural crest cells (ENCCs) impaired enteric neuronal differentiation and gut motility.

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This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.

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