Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population
| Autor: | Genyin Dai, Shiwei Yang, Xinli Li, Jun Li, Fangzhi Du, Zhening Pu, Yuming Qin, Jirong Qi, Zhu Jiang, Tao Jiang, Yue Cheng, Juncheng Dai, Xueying Cheng, Cong Ren, Liming Cao, Jun Wang |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Adolescent Computed Tomography Angiography Activin Receptors Type II Mutation Missense congenital disease Total anomalous pulmonary venous return total anomalous pulmonary venous return (TAPVR) rare genetic variant Electrocardiography 03 medical and health sciences symbols.namesake Rare Diseases 0302 clinical medicine Asian People Sarcoglycans Internal medicine Exome Sequencing Epidemiology Humans Medicine genetics Child Exome sequencing Sanger sequencing Chinese population Traditional medicine business.industry Scimitar Syndrome whole-exome sequencing (WES) Infant ACVRL1 030104 developmental biology Oncology Echocardiography Cardiothoracic surgery Case-Control Studies Child Preschool symbols Female Congenital disease business 030217 neurology & neurosurgery Research Paper |
| Zdroj: | Oncotarget |
| ISSN: | 1949-2553 |
| DOI: | 10.18632/oncotarget.15434 |
| Popis: | // 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. 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. |
| Databáze: | OpenAIRE |
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