Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population
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Jun Li1,*, Shiwei Yang1,*, Zhening Pu2,*, Juncheng Dai2, Tao Jiang2, Fangzhi Du2, Zhu Jiang2, Yue Cheng2, Genyin Dai1, Jun Wang1, Jirong Qi3, Liming Cao1, Xueying Cheng1, Cong Ren1, Xinli Li4, Yuming Qin1
1Department of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China
2Department 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
3Department of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Nanjing 210008, China
4Department of Cardiology, The First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China
*These authors contributed equally to this work
Shiwei Yang, email: firstname.lastname@example.org
Yuming Qin, email: email@example.com
Xinli Li, email: firstname.lastname@example.org
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
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. Blood samples collected from the 6 sporadic TAPVR cases and 81 non-TAPVR controls were subjected to whole exome sequencing. All detected variations were confirmed by direct Sanger sequencing. Here, we identified 2 non-synonymous missense mutations: c.C652T, p.R218W in activin A receptor type II-like 1 (ACVRL1), c.C717G, p.D239E in sarcoglycan delta (SGCD). Our results offered the landscape of mutations for TAPVR in Chinese population firstly and are valuable in the mutation-based pre- and post-natal screening and genetic diagnosis for TAPVR.
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