title: Mutations and down-regulation of CDX1 in children with anorectal malformations.
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.
  
  
  CONCLUSIONS
  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.
authors: Department of Pediatric Surgery, Shengjing Hospital, China Medical University, Shenyang, P.R. China.
authors: Tao
authors: T
authors: Zhang
authors: Xiao Bing
authors: XB
authors: Tang
authors: Li Li
authors: LL
authors: Wang
authors: Yu Zuo
authors: YZ
authors: Bai
authors: Guang Rong
authors: GR
authors: Qiu
authors: Zheng Wei
authors: ZW
authors: Yuan
authors: Wei Lin
authors: WL
authors: Wang
mesh_terms: D000071056:Anorectal Malformations; D001006:Anus, Imperforate / Q000235:genetics / Q000503:physiopathology; D015536:Down-Regulation; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012007:Rectum / Q000002:abnormalities
chemical_list: C491273:CDX1 protein, human; D018398:Homeodomain Proteins
keywords: Anorectal malformations; CDX1; children; mutation