Pulignani Silvia, Foffa Ilenia, Cresci Monica, Vittorini Simona, Ait-Ali Lamia, Andreassi Maria Grazia
Silvia Pulignani, Ilenia Foffa, Monica Cresci, Simona Vittorini, Lamia Ait-Alì, Maria Grazia Andreassi.
Recenti Prog Med. 2011 Mar;102(3):120-5. doi: 10.1701/608.7068.
Single gene mutations in Gata4 and Nkx2.5 genes have been identified as a causative factor for various clinical forms of hereditary congenital heart diseases (CHDs), especially for cardiac septal defects. However, the role of Gata4 and Nkx2.5 mutations in familial CHD is not clear yet. We report 5 cases of familial CHD with a positive history of cardiac septal defects. Our data suggest that mutations of either the Gata4 or Nkx2.5 genes are very uncommonly found in familial cases of CHD, supporting the genetic heterogeneity of cardiac congenital defects and the limitation of genetic testing in clinical setting.
Gata4和Nkx2.5基因的单基因突变已被确定为各种临床类型的遗传性先天性心脏病（CHD）的致病因素，尤其是心脏间隔缺损。然而，Gata4和Nkx2.5突变在家族性CHD中的作用尚不清楚。我们报告了5例有心脏间隔缺损阳性家族史的家族性CHD病例。我们的数据表明，在家族性CHD病例中，Gata4或Nkx2.5基因的突变非常罕见，这支持了心脏先天性缺陷的遗传异质性以及临床环境中基因检测的局限性。
