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Anorectal malformations (ARMs) comprise a broad spectrum of anomalies, includinganal atresia, congenital anal fistula and persistence of the cloaca. Researchsuggests that genetic factors play an important role in ARM development. However,few genetic variants have been identified. Embryogenesis is orchestrated by crosstalkof the wingless-type MMTV integration site family (WNT) and fibroblast growthfactor (FGF) signaling pathways in a process that involves several intracellularcascades. Studies in mice have implicated several genes from these pathways inthe etiology of ARMs. We performed sequencing analysis of seven of these previouslyreported genes in 78 patients with ARMs occurring within the context of at leastone additional congenital anomaly. No associations were identified with variantsin WNT3A, WNT5A, WNT11, DACT1, FGF10 or the T gene. In the FGFR2 gene, three novelheterozygous nucleotide substitutions were identified. Further investigations,including the study of family members, revealed that these variants were not causallyrelated to the phenotype in the present ARM cohort. Mutations in the seven investigatedgenes may nonetheless be a cause of ARMs in rare cases. However, further studiesshould consider genes encoding other proteins in the WNT/FGF signaling pathwaysas possible candidates.

international journal of molecular medicine

Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: Sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene