caa a22 4500 445861045 CHVBK 20180317145443.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1007/s00439-011-0996-7 doi (NATIONALLICENCE)springer-10.1007/s00439-011-0996-7 Two novel mutations of the IRX4 gene in patients with congenital heart disease [Elektronische Daten] [Zhi Cheng, Jing Wang, Dongmei Su, Hong Pan, Guoying Huang, Xiaotian Li, Zhongzhi Li, Adong Shen, Xiaodong Xie, Binbin Wang, Xu Ma] 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. Springer-Verlag, 2011 Cheng Zhi Graduate School, Peking Union Medical College, Beijing, China aut Wang Jing Graduate School, Peking Union Medical College, Beijing, China aut Su Dongmei Center for Genetics, National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, 100081, Beijing, China aut Pan Hong Center for Genetics, National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, 100081, Beijing, China aut Huang Guoying Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China aut Li Xiaotian Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China aut Li Zhongzhi Public Central Laboratory, Beijing Pediatric Institute, Beijing Children's Hospital affiliated to Capital Medical University, Beijing, China aut Shen Adong Public Central Laboratory, Beijing Pediatric Institute, Beijing Children's Hospital affiliated to Capital Medical University, Beijing, China aut Xie Xiaodong School of Life Science, Lanzhou University, Lanzhou, China aut Wang Binbin Graduate School, Peking Union Medical College, Beijing, China aut Ma Xu Graduate School, Peking Union Medical College, Beijing, China aut Human Genetics Springer-Verlag 130/5(2011-11-01), 657-662 0340-6717 130:5<657 2011 130 439 https://doi.org/10.1007/s00439-011-0996-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-0996-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Cheng Zhi Graduate School, Peking Union Medical College, Beijing, China aut NATIONALLICENCE 700 1- Wang Jing Graduate School, Peking Union Medical College, Beijing, China aut NATIONALLICENCE 700 1- Su Dongmei Center for Genetics, National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, 100081, Beijing, China aut NATIONALLICENCE 700 1- Pan Hong Center for Genetics, National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, 100081, Beijing, China aut NATIONALLICENCE 700 1- Huang Guoying Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China aut NATIONALLICENCE 700 1- Li Xiaotian Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China aut NATIONALLICENCE 700 1- Li Zhongzhi Public Central Laboratory, Beijing Pediatric Institute, Beijing Children's Hospital affiliated to Capital Medical University, Beijing, China aut NATIONALLICENCE 700 1- Shen Adong Public Central Laboratory, Beijing Pediatric Institute, Beijing Children's Hospital affiliated to Capital Medical University, Beijing, China aut NATIONALLICENCE 700 1- Xie Xiaodong School of Life Science, Lanzhou University, Lanzhou, China aut NATIONALLICENCE 700 1- Wang Binbin Graduate School, Peking Union Medical College, Beijing, China aut NATIONALLICENCE 700 1- Ma Xu Graduate School, Peking Union Medical College, Beijing, China aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 130/5(2011-11-01), 657-662 0340-6717 130:5<657 2011 130 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer