ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
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.
Sarkozy
Anna
A
CSS Hospital, IRCCS, San Giovanni Rotondo, Italy; CSS-Mendel Institute, Rome, Italy.
Conti
Emanuela
E
D'Agostino
Rita
R
Digilio
Maria Cristina
MC
Formigari
Roberto
R
Picchio
Fernando
F
Marino
Bruno
B
Pizzuti
Antonio
A
Dallapiccola
Bruno
B
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
D051792:Basic Helix-Loop-Helix Proteins; D004268:DNA-Binding Proteins; D012097:Repressor Proteins; D014157:Transcription Factors; C405693:HEY2 protein, human; C117427:ZFPM2 protein, human