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Int J Med Sci. 2013;10(2):191-7. doi: 10.7150/ijms.4929. Epub 2013 Jan 9.

Mutations and down-regulation of CDX1 in children with anorectal malformations.

Author information

1
Department of Pediatric Surgery, Shengjing Hospital, China Medical University, Shenyang, P.R. China.

Abstract

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; children; mutation

PMID:
23329892
PMCID:
PMC3547218
DOI:
10.7150/ijms.4929
[Indexed for MEDLINE]
Free PMC Article
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