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Copy number variant analysis for syndromic congenital heart disease in the Chinese population
Ping Li1, Weicheng Chen1,2, Mengru Li1
1Pediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Insights
Copy number variants (CNVs) are key causes of syndromic congenital heart disease (CHD). This study identified pathogenic CNVs in Chinese pediatric patients using chromosomal microarray analysis (CMA), aiding genetic diagnosis.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Syndromic congenital heart disease (CHD) is a severe pediatric condition.
- Copy number variants (CNVs) are significant contributors to syndromic CHD.
- Limited research exists on CNVs in Chinese syndromic CHD patients.
Purpose of the Study:
- To identify pathogenic CNVs associated with syndromic CHD in the Chinese population.
- To evaluate the diagnostic utility of chromosomal microarray analysis (CMA) for syndromic CHD.
Main Methods:
- Chromosomal microarray analysis (CMA) was performed on 109 sporadic syndromic CHD patients.
- Phenotype spectrum analysis of identified pathogenic/likely pathogenic CNVs.
- Prioritization of CHD-related genes using multiple bioinformatics tools (VarElect, OVA, AMELIE, ToppGene).
Main Results:
- Identified 29 pathogenic/likely pathogenic CNVs in 24 out of 109 patients (23.1% diagnostic yield).
- Highlighted 16 candidate CHD-related genes through overlapping analysis of prioritization tools.
- Filtered out common CNVs to focus on disease-specific variants.
Conclusions:
- CMA is crucial for determining the genetic etiology of syndromic CHD in Chinese pediatric patients.
- This study expands the understanding of genetic causes of syndromic CHD.
- Identified candidate genes warrant further functional investigation for their role in CHD.
Background:
Syndromic congenital heart disease (CHD) is among the most severe conditions in the pediatric population. Copy number variant (CNV) is an important cause of syndromic CHD, but few studies focused on CNVs related to these patients in China. The present study aimed to identify pathogenic CNVs associated with syndromic CHD in the Chinese population.
Methods:
A total of 109 sporadic patients with syndromic CHD were applied chromosomal microarray analysis (CMA). Phenotype spectrum of pathogenic or likely pathogenic CNVs was analyzed. CHD-related genes were prioritized from genes within pathogenic or likely pathogenic CNVs by VarElect, OVA, AMELIE, and ToppGene.
Results:
Using CMA, we identified 43 candidate CNVs in 37/109 patients. After filtering CNVs present in the general population, 29 pathogenic/likely pathogenic CNVs in 24 patients were identified. The diagnostic yield of CMA for pathogenic/likely pathogenic CNVs was 23.1% (24/104), excluding 5 cases with aneuploidies or gross chromosomal aberrations. The overlapping analysis of CHD-related gene lists from different prioritization tools highlighted 16 CHD candidate genes.
Conclusion:
As the first study focused on CNVs in syndromic CHD from the Chinese population, this study reveals the importance of CMA in exploring the genetic etiology of syndromic CHD and expands our understanding of these complex diseases. The bioinformatic analysis of candidate genes suggests several CHD-related genes for further functional research.
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