Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection

Overview

Journal Front Genet

Date 2018 Dec 12

PMID 30532766

Citations 16

Authors

Xin Shi

Liangping Cheng

Xianting Jiao

Bo Chen

Zixiong Li

Yulai Liang

Wei Liu

Jing Wang

Gang Liu

Yuejuan Xu

Jing Sun

Qihua Fu

Yanan Lu

Sun Chen

Affiliations

Soon will be listed here.

Abstract

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 (. 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, and 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.

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