Rare copy number variants in patients with congenital conotruncal heart defects.

ABSTRACT:

Background

Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome.

Methods

Cases and control samples were divided into two cohorts and genotyped to assess each subject's CNV content. Analyses were performed to ascertain differences in overall CNV prevalence and to identify enrichment of specific genes and functional pathways in conotruncal cases relative to healthy controls.

Results

Only findings present in both cohorts are presented. From 973 total

SUBMITTER: Xie HM 

PROVIDER: S-EPMC5407323 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature