Int J Med Sci 2013; 10(2):191-197. doi:10.7150/ijms.4929 This issue

Research Paper

Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations

Tao Zhang1#, Xiao Bing Tang1#, Li Li Wang2, Yu Zuo Bai1✉, Guang Rong Qiu3, Zheng Wei Yuan2, Wei Lin Wang1

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.

This is an open access article distributed under the terms of the Creative Commons Attribution (CC BY-NC) License. See for full terms and conditions.
Zhang T, Tang XB, Wang LL, Bai YZ, Qiu GR, Yuan ZW, Wang WL. Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations. Int J Med Sci 2013; 10(2):191-197. doi:10.7150/ijms.4929. Available from

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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