Unraveling the genetic basis of omphalocele: A systematic review
Marie Bousquet1, Xavier L E Guillou2, Mederic Jeanne3
1CHU of Tours, Gatien de Clocheville Hospital - Visceral Pediatric Surgery Unit, Tours, France.
Introduction:
Omphalocele is one of the most common congenital defects of the abdominal wall. Although a genetic contribution is strongly suspected, the underlying mechanisms remain poorly understood. The aim of this study was to systematically review and analyze genes potentially involved in omphalocele formation, with the objective of clarifying its pathophysiology and identifying key embryological stages.
Materials And Methods:
A systematic review was conducted using the PRISMA methodology, covering the PubMed database from its inception to September 2025. The level of evidence of the included studies was assessed. Genes were identified and classified, and a functional enrichment analysis was performed based on the compiled gene list.
Results:
54 articles were included, identifying 53 genes potentially involved in omphalocele formation. Enrichment analysis indicated that these genes are not randomly distributed across the genome but instead converge on key developmental processes, particularly those related to cell signaling, structural organization, and neurodevelopment.
Conclusion:
The analysis did not identify a single embryological stage responsible for omphalocele formation. Instead, the biological pathways highlighted by the enrichment analysis support the involvement of multiple embryological compartments and temporal windows, arguing in favor of a complex and multifactorial embryological process.
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