CNVs Analysis For Congenital Heart Disease

Background: Copy number variations(CNVs) is known to beassociated with congenital heart defects. And it is indicated thatpathogenic CNVs more frequently associated with congenital heart defectwith extracardiac defects. But now there is no investigation of CNV withcongenital heart defects.Objective: To investigate the relationship between the pathogenic CNVs and congenital heart defects, discover thenovel pathogenic CNVs, and ascertain the new candidate genesassociated with congenital heart defects.Methods: We searched 30 infants with congenital heart defects, diagnosed between November 2013 and November 2015 at Beijing Anzhen Hospital, Capital Medical University, which is a fetal referral center. In order to seek CNVs regions related to congenital heart defects, whole genome CNVs were analyzed in allpatients viawhole-genome sequencing technology.Results: Eight pathogenic CNVs were found in the eightcongenitalheart disease patients, which were chromosome14q11.2microdeletion, chromosome 15q11.2microduplication; chromosome16q21 microduplication, chromosome 21q21.1-21q21.2 microdeletion; chromosome2p22.3microduplication; chromosome 14q11.2microdeletion; chromosome 6q14.1microduplication; chromosome 11p11.2microduplication, chromosome14q11.2microdeletion; chromosome 22q11.21-22q12.1microdeletion; chromosome 5p15.33-5p15.2microduplication, chromosome18q22.3-18q23 microdeletion.Conclusions:1.The result isone case of 22q11.21 microdeletion syndrome that increases the risk of CHD.2. Make afurther step of the correlation between CNVs and etiology of CHD.3.Pathogenesis of congenital heart disease is a matter of multiple genes involved in the complex process of interaction with the regulation. Thus, the present study is based on future expansion study CNVs variation, will help to further improve the molecular pathogenesis of congenital heart disease.