Copy number variation in Chinese children with complete atrioventricular canal and single ventricle
| Title | Copy number variation in Chinese children with complete atrioventricular canal and single ventricle |
|---|---|
| Description | Congenital heart disease (CHD) is one of the most common birth defects. Copy number variations (CNVs) have been proved to be important genetic factors that contribute to CHD. Here we screened genome-wide CNVs in Chinese children with complete atrioventricular canal (CAVC) and single ventricle (SV), since there were scarce researches dedicated to these two types of CHD. We screened CNVs in 262 sporadic CAVC cases and 259 sporadic SV cases respectively, using a customized SNP array. The detected CNVs were annotated and filtered using available databases. Among 262 CAVC patients, we identified 6 potentially-causative CNVs in 43 individuals (16.41%, 43/262), including 2 syndrome-related CNVs (7q11.23 and 8q24.3 deletion). Additionally, 6 potentially-causative CNVs were identified in the SV patients (2.32%, 6/259), and none of them was trisomy 21. The presence of potentially-causative CNVs suggests the etiology of complex CHD is incredibly diverse, and CHD candidate genes remain to be discovered. |
| Organism | Homo sapiens |
| Data Type | - |
| Data Accessibility | Open-access |
| BioProject | PRJCA006378 |
| Release Date | 2021-09-22 |
| Submitter | xiaoqing zhang (qingxiao18@163.com) |
| Organization | shanghai childrens medical center |
| Submission Date | 2021-09-01 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX561-50-01 | Raw data for microarray | 528 | DNA Microarray | 3.91 GB | zip | 0 | |
| OMIX561-05-03 | phenotype | 1 | Phenotype | 27.06 KB | xlsx | 0 |