Next-generation sequencing identifies novel genes with rare variants in total anomalous pulmonary venous connection.

ABSTRACT:

Background

Total anomalous pulmonary venous connection (TAPVC) is recognized as a rare congenital heart defect (CHD). With a high mortality rate of approximately 80%, the survival rate and outcomes of TAPVC patients are not satisfactory. However, the genetic aetiology and mechanism of TAPVC remain elusive. This study aimed to investigate the underlying genomic risks of TAPVC through next-generation sequencing (NGS).

Methods

Rare variants were identified through whole exome sequencing (WES) of 78 sporadic TAPVC cases and 100 healthy controls using Fisher's exact test and gene-based burden test. We then detected candidate gene expression patterns in cells, pulmonary vein tissues, and embryos. Finally, we validated these genes using target sequencing (TS) in another 100 TAPVC c

SUBMITTER: Shi X 

PROVIDER: S-EPMC6306349 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature