ArticleBioMed research international2015
Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.
Article in BioMed research international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Article
- The Needle in the Haystack-Searching for Genetic and Epigenetic Differences in Monozygotic Twins Discordant for Tetralogy of Fallot.Journal of cardiovascular development and disease · 2020Article
- Proteomics analysis indicated the protein expression pattern related to the development of fetal conotruncal defects.Journal of cellular physiology · 2019Article
- Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome.Genetics and molecular biology · 2019Article
- Article
- Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.Molecular genetics & genomic medicine · 2018Article
- Identification of ZFPM2 mutations in sporadic conotruncal heart defect patients.Molecular genetics and genomics : MGG · 2018Article
- Histone deacetylase 1 and 2 are essential for murine neural crest proliferation, pharyngeal arch development, and craniofacial morphogenesis.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Article
- Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Journal of applied genetics · 2017Review
- Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.Orphanet journal of rare diseases · 2016Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite considerable advances in the detection of genomic abnormalities in congenital heart disease (CHD), the etiology of CHD remains largely unknown. CHD is the most common birth defect and is a major cause of infant morbidity and mortality, and conotruncal defects constitute 20% of all CHD cases. We used array comparative genomic hybridization (array-CGH) to retrospectively study 60 subjects with conotruncal defects and identify genomic imbalances. The DNA copy number variations (CNVs) detected were matched with data from genomic databases, and their clinical significance was evaluated. We found that 38.3% (23/60) of CHD cases possessed genomic imbalances. In 8.3% (5/60) of these cases, the imbalances were causal or potentially causal CNVs; in 8.3% (5/60), unclassified CNVs were identified; and in 21.6% (13/60), common variants were detected. Although the interpretation of the results must be refined and there is not yet a consensus regarding the types of CHD cases in which array-CGH should be used as a first-line test, the identification of these CNVs can assist in the evaluation and management of CHD. The results of such studies emphasize the growing importance of the use of genome-wide assays in subjects with CHD to increase the number of genomic data sets associated with this condition.
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