Int J Med Sci 2013; 10(2):191-197. doi:10.7150/ijms.4929 This issue
1. Department of Pediatric Surgery, Shengjing Hospital, China Medical University.
2. The Key Laboratory of Health Ministry for Congenital Malformation
3. Departments of Medical Genetics, China Medical University.
# Tao Zhang and Xiao Bing Tang contributed to this article equally.
Background: Anorectal malformations (ARMs) represent a variety of congenital disorders that involve abnormal termination of the anorectum. This study was to reveal relation between CDX1 and human ARMs phenotypes.
Methods: 108 Chinese patients and 120 Chinese controls were included in this study. We analyzed the relation between two by PCR, qRT-PCR, western blot and immunofluorescence.
Results: Four heterozygous mutations in CDX1 gene were identified in ARMs patients (3.7%, 4/108), no found in controls. CDX1 protein expression was significantly decreased in the ARMs compared with the control anorectum. All samples analyzed in ARMs group exhibited down-regulated CDX1 mRNA expression in comparison to matched normal group, demonstrated significant differences statistically.
Conclusion: The findings represented the relation between CDX1 mutations and CDX1 genotype. Furthermore, it was suggested that the downregulation of CDX1 might be related to the development of ARMs.
Keywords: Anorectal malformations, CDX1, mutation, children