ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia

Anna Sarkozy, Emanuela Conti, Rita D'Agostino, Maria Cristina Digilio, Roberto Formigari, Fernando Picchio, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)68-70
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume133 A
Issue number1
DOIs
Publication statusPublished - Feb 15 2005

Keywords

  • Congenital heart defect
  • Tricuspid atresia
  • ZFPM2/FOG2, HEY2

ASJC Scopus subject areas

  • Genetics(clinical)

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    Sarkozy, A., Conti, E., D'Agostino, R., Digilio, M. C., Formigari, R., Picchio, F., Marino, B., Pizzuti, A., & Dallapiccola, B. (2005). ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia. American Journal of Medical Genetics, 133 A(1), 68-70. https://doi.org/10.1002/ajmg.a.30534