Genetic landscape of congenital pouch colon: systematic review and functional enrichment study
Topic overview
This systematic review identifies genetic variants and molecular pathways underlying congenital pouch colon, a rare anorectal malformation. Analysis of 20 cases revealed mutations in 11 genes, with Wnt and HOX pathways implicated in disease pathogenesis, providing insights for genetic counseling and personalized treatment approaches.
Key takeaways
- CPC involves variants in 11 genes including MUC5B, FRG1, and TAF1B affecting mucosal barrier, colonic muscle development, and rRNA transcription
- Genetic hotspots identified on chromosomes 11, 16, and 17 with RGPD2/RGPD4 showing differential expression in bowel tissue
- Wnt and HOX signaling pathways implicated in CPC pathogenesis, with JAG1 and MLL genes playing key roles
- 24 missense SNPs and 63 frameshift variants identified across 20 CPC cases, establishing genetic architecture for this rare anomaly
- Findings require validation in larger, diverse cohorts and functional studies before clinical application in genetic counseling
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How to cite: GlobalCastMD. Genetic landscape of congenital pouch colon: systematic review and functional enrichment study. GlobalCastMD Medical Library. 2024-11-18. https://dev.library.globalcastmd.com/article/9438?via_space=staycurrentmd
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