机构：[1]Natl Res Inst Family Planning, Ctr Genet, Beijing 100081, Peoples R China;[2]WHO, Collaborating Ctr Res Human Reprod, Beijing, Peoples R China;[3]Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China;[4]Fudan Univ, Pediat Heart Ctr, Childrens Hosp, Shanghai 200433, Peoples R China;[5]Capital Med Univ, Publ Cent Lab, Beijing Pediat Inst, Beijing Childrens Hosp, Beijing, Peoples R China;科研平台儿科研究所首都医科大学附属北京儿童医院[6]Lanzhou Univ, Sch Life Sci, Lanzhou 730000, Peoples R China;[7]Natl Res Inst Family Planning, Ctr Genet, 12 Dahuisi Rd, Beijing 100081, Peoples R China
IRX4 was the first identified cardiac transcription factor that is restricted to the ventricles at all stages of heart development. Irx4-deficient mice show ventricular dysfunction and develop cardiomyopathy. To study the potential impact of sequence variations in IRX4 on congenital heart disease (CHD) in humans, we examined the coding region of IRX4 in a cohort of 698 Chinese people with congenital heart disease and 250 healthy individuals as the controls. We found two potential disease-causing mutations, p. Asn85Tyr and p. Glu92Gly. A mammalian two-hybrid assay showed that both of the mutations significantly affected the interaction between IRX4 and RXRA. It demonstrated that IRX4 had a potential causative impact on the development of congenital heart disease, particularly ventricular septal defect.
基金：
National Basic Research Program of ChinaNational Basic Research Program of China [2010CB529505, 2010CB529504]; National Science and Technology Pillar Program of China [2008BAH24B05]; National Infrastructure Program of Chinese Genetic Resources [2006DKA21300]
第一作者机构：[1]Natl Res Inst Family Planning, Ctr Genet, Beijing 100081, Peoples R China;[3]Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China;
通讯作者：
通讯机构：[1]Natl Res Inst Family Planning, Ctr Genet, Beijing 100081, Peoples R China;[2]WHO, Collaborating Ctr Res Human Reprod, Beijing, Peoples R China;[3]Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China;[7]Natl Res Inst Family Planning, Ctr Genet, 12 Dahuisi Rd, Beijing 100081, Peoples R China
推荐引用方式(GB/T 7714)：
Cheng Zhi,Wang Jing,Su Dongmei,et al.Two novel mutations of the IRX4 gene in patients with congenital heart disease[J].HUMAN GENETICS.2011,130(5):657-662.doi:10.1007/s00439-011-0996-7.
APA：
Cheng, Zhi,Wang, Jing,Su, Dongmei,Pan, Hong,Huang, Guoying...&Ma, Xu.(2011).Two novel mutations of the IRX4 gene in patients with congenital heart disease.HUMAN GENETICS,130,(5)
MLA：
Cheng, Zhi,et al."Two novel mutations of the IRX4 gene in patients with congenital heart disease".HUMAN GENETICS 130..5(2011):657-662
