ArticleAnatolian journal of cardiology2018
Analysis of gene copy number variations in patients with congenital heart disease using multiplex ligation-dependent probe amplification.
Article in Anatolian journal of cardiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.Global medical genetics · 2025Review
- Article
- Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis.Journal of pediatric genetics · 2023Review
- Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center.Arquivos brasileiros de cardiologia · 2022Article
- Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.European journal of pediatrics · 2021Article
- Article
- Identifying Novel Copy Number Variants in Azoospermia Factor Regions and Evaluating Their Effects on Spermatogenic Impairment.Frontiers in genetics · 2019Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAt the molecular and cellular levels, heart development entails the precise orchestration of genetic events such as the interplay of master transcriptional regulators, signaling pathways, and chromatin remodeling. Recent studies among patients with congenital heart disease (CHD) have shown the importance of recurrent copy number variations (CNVs) in a significant number of patients. Recurrent CNVs that span several genes may affect other important organs, besides the heart. Because CHD may be the first presenting symptom in such patients, the analysis of recurrent CNVs in the genomic regions containing genes associated with CHD in patients referring to cardiology clinics may lead to an early diagnosis and the treatment of extracardiac symptoms in these patients. In this study, we aimed to screen CNVs of genomic regions including GATA4, NKX2-5, TBX5, BMP4, and CRELD1 genes and to analyse the 22q11.2 chromosomal region in apparently nonsyndromic patients with cardiac septal defects.
methodsGenomic regions including GATA4, NKX2-5, TBX5, BMP4, and CRELD1 genes and the 22q11.2 chromosomal region were analyzed in apparently nonsyndromic 45 patients with cardiac septal defects using the MLPA P-311 A2 Congenital Heart Disease kit. Multiplex ligationdependent probe amplification (MLPA) is an established technique for the detection of known CNVs. MLPA is substantially less expensive than array CGH and is relatively simple to use for clinicians without specific expertise in genomic technology; thus, MLPA could be used as a first-tier screening assay.
resultsWe screened 45 patients with cardiac septal defects for CNVs using the MLPA P-311 A2 kit. We identified three CNVs (n=3/45, 6.66%) and three 22q11 deletions. The CNVs were confirmed using fluorescence in situ hybridization.
conclusionOur study confirmed that the analysis of recurrent CNVs using the MLPA assay within pediatric cardiology clinics can led to an early syndrome diagnosis in nonsyndromic patients with CHD.
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