Hamanoue Haruka, Rahayuningsih Sri Endah, Hirahara Yuya, Itoh Junko, Yokoyama Utako, Mizuguchi Takeshi, Saitsu Hirotomo, Miyake Noriko, Hirahara Fumiki, Matsumoto Naomichi
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Cardiol Young. 2009 Sep;19(5):482-5. doi: 10.1017/S1047951109990813. Epub 2009 Aug 13.
We analysed the GATA binding protein 4 gene, or GATA4, along with the NK2 transcription factor related, locus 5 gene, or NKX2.5, to determine their genetic contribution to 104 sporadic patients in Indonesia with congenitally malformed hearts, 76 cases having atrial septal defect and 28 tetralogy of Fallot. We found only 1 novel mutation of GATA4 in those with atrial septal defects. Analysis of the genetic background of the parents of the patient showed for the first time that a new mutation of GATA4 can cause sporadic atrial septal defects. We failed to discover any other mutations of either the GATA4 or NKX2-5 genes, supporting the marked genetic heterogeneity of human congenital cardiac defects.
我们分析了GATA结合蛋白4基因（即GATA4）以及NK2转录因子相关位点5基因（即NKX2.5），以确定它们对印度尼西亚104例先天性心脏畸形的散发性患者的遗传贡献，其中76例患有房间隔缺损，28例患有法洛四联症。我们在房间隔缺损患者中仅发现1个GATA4新突变。对患者父母的遗传背景分析首次表明，GATA4的新突变可导致散发性房间隔缺损。我们未发现GATA4或NKX2 - 5基因的任何其他突变，这支持了人类先天性心脏缺陷存在显著的遗传异质性。
