Rare de novo copy number variants in patients with congenital pulmonary atresia

ABSTRACT: Ongoing studies using genomic microarrays and next-generation sequencing have demonstrated that the genetic contributions to cardiovascular diseases have been significantly ignored in the past. The aim of this study was to identify rare copy number variants in individuals with congenital pulmonary atresia (PA). Based on the hypothesis that rare structural variants encompassing key genes play an important role in heart development in PA patients, we performed high-resolution genome-wide microarrays for copy number variations (CNVs) in 82 PA patient-parent trios and 189 controls with an Illumina SNP array platform. CNVs were identified in 17/82 patients (20.7%), and eight of these CNVs (9.8%) are considered potentially pathogenic. Five de novo CNVs occurred at two known congenital heart dise

ORGANISM(S): Homo sapiens

SUBMITTER: zhiping tan 

PROVIDER: E-GEOD-56422 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress