Details

Autor(en) / Beteiligte

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

Titel

ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia

Ist Teil von

• American journal of medical genetics, 2005-02, Vol.133A (1), p.68-70

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2005

Link zum Volltext

Quelle

Wiley Online Library

Beschreibungen/Notizen

• 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. © 2005 Wiley‐Liss, Inc.