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Published on: July 18, 2014
Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart
Orsolya Nagy1, Katalin Szakszon2, Brigitta Orsolya Biró3
1Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
Insights
Copy number variants (CNVs) are linked to syndromic congenital heart diseases (CHDs). Microarray and MLPA analyses effectively detect these genetic causes in syndromic CHD patients, improving diagnostic rates.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Congenital heart diseases (CHDs) are common birth defects with largely unknown causes.
- Genetic and environmental factors, including copy number variants (CNVs), are implicated in CHD pathogenesis.
- Identifying genetic causes is crucial for understanding and managing CHDs.
Purpose of the Study:
- To assess the clinical utility of multiplex ligation-dependent probe amplification (MLPA) and microarray analyses in CHD cases.
- To investigate the relationship between identified CNVs and syndromic versus isolated CHDs.
- To enhance the detection rate of causal CNVs in individuals with CHD.
Main Methods:
- Testing of 18 prenatal samples, 16 isolated CHD cases, and 33 syndromic CHD patients.
- Utilizing multiplex ligation-dependent probe amplification (MLPA) and microarray analyses.
- Analyzing copy number variants (CNVs) in relation to CHD phenotypes.
Main Results:
- No pathogenic CNVs were found in prenatal or isolated CHD cases.
- Clinically significant CNVs were detected in 7 out of 33 (21%) syndromic CHD patients.
- Identified CNVs included del 22q11.2, 8p23.1 duplication, deletion 5p, deletion 6q21q22, and an unbalanced translocation.
Conclusions:
- Microarray and MLPA analyses significantly increase the detection rate of causal CNVs in syndromic CHD.
- Genomic imbalances identified contain genes previously associated with human CHD.
- These methods are valuable tools for diagnosing genetic causes of syndromic CHD.
Abstract:
Congenital heart diseases (CHDs) are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors contribute to the disease. Recurrent copy number variants (CNVs) have been reported in the pathogenesis of CHD. The aim of this study was to evaluate the clinical utility of multiplex ligation-dependent probe amplification (MLPA) and microarray analyses on isolated and syndromic CHD cases and to explore the relationship between identified CNVs and CHD. Eighteen prenatal samples, 16 isolated and 33 syndromic patients with mild to severe CHD phenotype were tested. Prenatal and isolated CHD cases did not show pathogenic CNVs. Clinically significant CNVs were detected in 7/33 (21%) syndromic CHD patients: del 22q11.2 (n = 2), 8p23.1 duplication (n = 2), deletion 5p (n = 1), deletion 6q21q22 (n = 1), unbalanced translocation causing partial deletion of 4q34.3 and duplication of 6q25.1 (n = 1). These genomic imbalances contain genes that has been associated with human CHD before. The present study demonstrates that using microarray and MLPA analysis increase the detection rate of causal CNVs in individuals with syndromic CHD.
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