Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection
文献类型：期刊论文
| 作者 | Shi, Xin5; Cheng, Liangping5; Jiao, XianTing5; Chen, Bo5; Wang, Jing5; Xu, Yuejuan5; Sun, Jing5; Chen, Sun5; Li, Zixiong4; Liang, Yulai1 |
| 刊名 | FRONTIERS IN GENETICS
 |
| 出版日期 | 2018 |
| 卷号 | 16期号:6页码:559 |
| ISSN号 | 1664-8021 |
| 关键词 | congenital heart defects total anomalous pulmonary venous connection whole-exome sequencing copy number variants pathogenesis |
| DOI | 10.3389/fgene.2018.00559 |
| 文献子类 | Article |
| 英文摘要 | Total anomalous pulmonary venous connection (TAPVC) is a rare congenital heart anomaly. Several genes have been associated TAPVC but the mechanisms remain elusive. To search novel CNVs and candidate genes, we screened a cohort of 78 TAPVC cases and 100 healthy controls for rare copy number variants (CNVs) using whole exome sequencing (WES). Then we identified pathogenic CNVs by statistical comparisons between case and control groups. After that, we identified altogether eight pathogenic CNVs of seven candidate genes (PCSK7, RRP7A, SERHL, TARP, TTN, SERHL2, and NBPF3). All these seven genes have not been described previously to be related to TAPVC. After network analysis of these candidate genes and 27 known pathogenic genes derived from the literature and publicly database, PCSK7 and TIN were the most important genes for TAPVC than other genes. Our study provides novel candidate genes potentially related to this rare congenital birth defect (CHD) which should be further fundamentally researched and discloses the possible molecular pathogenesis of TAPVC. |
| 学科主题 | Genetics & Heredity |
| WOS关键词 | CONGENITAL HEART-DEFECTS ; VENOUS CONNECTION ; MUTATIONS ; DISEASE ; ARRAY ; ABNORMALITIES ; ASSOCIATION ; EXPRESSION ; FREQUENCY ; DIAGNOSIS |
| 语种 | 英语 |
| 出版者 | FRONTIERS MEDIA SA |
| WOS记录号 | WOS:000451201800001 |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/858]  |
| 专题 | 中国科学院上海生命科学研究院营养科学研究所 |
| 作者单位 | 1.Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai, Peoples R China; 2.Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Cardiothorac Surg, Shanghai, Peoples R China; 3.Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Med Lab, Shanghai, Peoples R China, 4.Nanjing Univ Chinese Med, Bayi Hosp, Dept Med Oncol, Nanjing, Jiangsu, Peoples R China; 5.Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Cardiovasc, Shanghai, Peoples R China; |
| 推荐引用方式 GB/T 7714 | Shi, Xin,Cheng, Liangping,Jiao, XianTing,et al. Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection[J]. FRONTIERS IN GENETICS,2018,16(6):559. |
| APA | Shi, Xin.,Cheng, Liangping.,Jiao, XianTing.,Chen, Bo.,Wang, Jing.,...&,.(2018).Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection.FRONTIERS IN GENETICS,16(6),559. |
| MLA | Shi, Xin,et al."Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection".FRONTIERS IN GENETICS 16.6(2018):559. |
入库方式： OAI收割
来源：上海营养与健康研究所
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