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ZFPM2 / FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia
Author(s) -
Sarkozy Anna,
Conti Emanuela,
D'Agostino Rita,
Digilio Maria Cristina,
Formigari Roberto,
Picchio Fernando,
Marino Bruno,
Pizzuti Antonio,
Dallapiccola Bruno
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30534
Subject(s) - pathogenesis , gene , genetics , tricuspid atresia , tricuspid valve , atresia , biology , mutation , ventricle , medicine , anatomy , immunology
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.