Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population

作者：Jun Li, Shiwei Yang, Zhening Pu, Juncheng Dai, Tao Jiang, Fangzhi Du, Zhu Jiang, Yue Cheng, Genyin Dai, Jun Wang, Jirong Qi, Liming Cao, Xueying Cheng, Cong Ren, Xinli Li, Yuming Qin · 发表于：Oncotarget · 年份：2017 · DOI：10.18632/oncotarget.15434 · 被引用次数：14 · 研究领域：Congenital Heart Disease Studies、Pulmonary Hypertension Research and Treatments、Congenital Diaphragmatic Hernia Studies

// Jun Li 1, * , Shiwei Yang 1, * , Zhening Pu 2, * , Juncheng Dai 2 , Tao Jiang 2 , Fangzhi Du 2 , Zhu Jiang 2 , Yue Cheng 2 , Genyin Dai 1 , Jun Wang 1 , Jirong Qi 3 , Liming Cao 1 , Xueying Cheng 1 , Cong Ren 1 , Xinli Li 4 , Yuming Qin 1 1 Department of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China 2 Department of Epidemiology and Biostatistics, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Medicine, School of Public Health, Nanjing Medical University, Nanjing 211166, China 3 Department of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Nanjing 210008, China 4 Department of Cardiology, The First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China * These authors contributed equally to this work Correspondence to: Shiwei Yang, email: jrdoctoryang@163.com Yuming Qin, email: doctor025ym@163.com Xinli Li, email: xinli3267@yeah.net Keywords: total anomalous pulmonary venous return (TAPVR), genetics, whole-exome sequencing (WES), rare genetic variant, congenital disease Received: August 01, 2016      Accepted: February 06, 2017      Published: February 17, 2017 ABSTRACT As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR) remains unknown, although previous studies have revealed potential disease-driving regions/genes...