title: ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
abstract: Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic Zfpm2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt.
authors.affiliation: CSS Hospital, IRCCS, San Giovanni Rotondo, Italy; CSS-Mendel Institute, Rome, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Sarkozy
authors.forename: Emanuela
authors.initials: E
authors.lastname: Conti
authors.forename: Rita
authors.initials: R
authors.lastname: D'Agostino
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Roberto
authors.initials: R
authors.lastname: Formigari
authors.forename: Fernando
authors.initials: F
authors.lastname: Picchio
authors.forename: Bruno
authors.initials: B
authors.lastname: Marino
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000293:Adolescent; D000328:Adult; D051792:Basic Helix-Loop-Helix Proteins; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D018785:Tricuspid Atresia / Q000235:genetics* / Q000473:pathology
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D004268:DNA-Binding Proteins; D012097:Repressor Proteins; D014157:Transcription Factors; C405693:HEY2 protein, human; C117427:ZFPM2 protein, human