PRDM9 Deficiency Drives Mosaic Promoter Deletions in Sporadic Hirschsprung Disease and Supports Blood-based Molecular Stratification - PubMed
5 hours ago
- #Molecular Stratification
- #Hirschsprung Disease
- #PRDM9 Deficiency
- PRDM9 deficiency in sporadic Hirschsprung disease (HSCR) leads to mosaic promoter deletions (MPDs).
- MPDs disrupt neurogenesis, causing impaired enteric neuron differentiation and motility issues in animal models.
- Blood-based MPD scores combined with polygenic risk scores effectively stratify HSCR patients (AUROC up to 0.91).