title: Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.
abstract: OBJECTIVE
  The NOG protein is a secretory antagonist of bone morphogenetic proteins (BMPs). Nog-/- mouse embryos demonstrate proximal esophageal atresia (EA) and distal tracheoesophageal fistula (TEF) compatible with the most common configuration of EA/TEF observed in humans. Four microdeletions that span the NOG locus at 17q22 have been described in human patients having EA/TEF. We investigated the incidence of point mutations in the coding region of the NOG gene in human EA/TEF.
  
  
  METHODS
  DNA was collected from 50 patients previously treated for EA/TEF. PCR was used to amplify the coding region of NOG. To detect single nucleotide polymorphisms (SNPs), amplicons were subjected to temperature gradient capillary electrophoresis (TGCE). Candidate SNPs were directly sequenced.
  
  
  RESULTS
  TGCE analysis revealed a SNP in the coding region of NOG in 1 of 50 patients (2%). DNA sequencing revealed a synonymous SNP at position 468 (C-T) of the NOG coding region.
  
  
  CONCLUSIONS
  SNPs in the coding region of the NOG gene are identified infrequently in human cases of EA/TEF. Further investigation of SNPs in the promoter region of NOG is warranted, as is the effect of synonymous SNPs on NOG mRNA stability.
authors.affiliation: Department of Pediatric Surgery, Vanderbilt University Children's Hospital, Doctor's Office Tower, Suite 7102, 2200 Children's Way, Nashville, TN 37232-9780, USA. andrew.j.murphy@vanderbilt.edu
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Murphy
authors.forename: Yina
authors.initials: Y
authors.lastname: Li
authors.forename: Joshua B
authors.initials: JB
authors.lastname: Pietsch
authors.forename: Chin
authors.initials: C
authors.lastname: Chiang
authors.forename: Harold N
authors.initials: HN
authors.lastname: Lovvorn
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004933:Esophageal Atresia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D014138:Tracheoesophageal Fistula / Q000235:genetics*; D000099176:Noggin Protein
chemical_list: D002352:Carrier Proteins; D000099176:Noggin Protein
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