title: Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).
abstract: BACKGROUND
  PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe heart malformations, including transposition of the great arteries (TGA). TGA accounts for 5-7% of all congenital heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent cyanotic heart defect diagnosed in the neonatal period.
  
  
  METHODS
  To address whether altered PITX2 function could also contribute to the formation of dTGA in humans, we screened 96 patients with dTGA by means of dHPLC and direct sequencing for mutations within the PITX2 gene.
  
  
  RESULTS
  Several SNPs could be detected, but no stop or frame shift mutation. In particular, we found seven intronic and UTR variants, two silent mutations and two polymorphisms within the coding region.
  
  
  CONCLUSIONS
  As most sequence variants were also found in controls we conclude that mutations in PITX2 are not a common cause of dTGA.
authors.affiliation: Institut für Humangenetik, Universität Heidelberg, INF 366, 69120 Heidelberg, Germany. nadja_muncke@med.uni-heidelberg.de
authors.forename: Nadja
authors.initials: N
authors.lastname: Muncke
authors.forename: Beate
authors.initials: B
authors.lastname: Niesler
authors.forename: Ralph
authors.initials: R
authors.lastname: Roeth
authors.forename: Karin
authors.initials: K
authors.lastname: Schön
authors.forename: Heinz-Juergen
authors.initials: HJ
authors.lastname: Rüdiger
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Goldmuntz
authors.forename: Judith
authors.initials: J
authors.lastname: Goodship
authors.forename: Gudrun
authors.initials: G
authors.lastname: Rappold
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D005820:Genetic Testing / Q000379:methods; D014644:Genetic Variation / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D020033:Protein Isoforms / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D014188:Transposition of Great Vessels / Q000209:etiology* / Q000235:genetics*; D020506:Untranslated Regions / Q000235:genetics; D000097577:Homeobox Protein PITX2
chemical_list: D018398:Homeodomain Proteins; D020033:Protein Isoforms; D014157:Transcription Factors; D020506:Untranslated Regions; D000097577:Homeobox Protein PITX2