Trial reportEuropean journal of human genetics : EJHG2019
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.
Trial report in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 37 citations in OpenAlex.
- Chromosomal Location and Identification ofDiagnostics (Basel, Switzerland) · 2025Article
- Exploring genetic mapping and co-expression patterns to illuminate significance of Tbx20 in cardiac biology.Transgenic research · 2025Article
- Site-specific genetic and functional signatures of aortic endothelial cells at aneurysm predilection sites in healthy and AngII ApoEAngiogenesis · 2024Article
- Heritable thoracic aortic disease: a literature review on genetic aortopathies and current surgical management.General thoracic and cardiovascular surgery · 2024Review
- Variants in structural cardiac genes in patients with cancer therapy-related cardiac dysfunction after anthracycline chemotherapy: a case control study.Cardio-oncology (London, England) · 2024Article
- Genetics and mechanisms of thoracic aortic disease.Nature reviews. Cardiology · 2023Review
- Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.PLoS genetics · 2022Article
- Article
- The genetic, molecular, and hemodynamic basis of bicuspid aortic valve aortopathy: A contemporary narrative review.International journal of cardiology. Congenital heart disease · 2022Review
- DNA Methylation Analysis of Turner Syndrome BAV.Frontiers in genetics · 2022Article
- Bicuspid Aortic Valve: Genetic and Clinical Insights.Aorta (Stamford, Conn.) · 2021Article
- Review
- Review
- The Role ofFrontiers in cell and developmental biology · 2021Review
- Aortic Dissection in an Undiagnosed Familial Form of Bicuspid Aortic Valve with a Short Raphe.CASE (Philadelphia, Pa.) · 2020Article
- A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve.Genetics and molecular biology · 2020Article
- Genetics in bicuspid aortic valve disease: Where are we?Progress in cardiovascular diseasesReview
Corrections and comments
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Authors and funding
24 authors at 7 institutions in 7 countries.
Funding
Abstract
Bicuspid aortic valve (BAV) is the most common congenital heart defect (CHD), affecting 1-2% of the population. BAV is associated with thoracic aortic aneurysms (TAAs). Deleterious copy number variations (CNVs) were found previously in up to 10% of CHD cases. This study aimed at unravelling the contribution of deleterious deletions or duplications in 95 unrelated BAV/TAA patients. Seven unique or rare CNVs were validated, harbouring protein-coding genes with a role in the cardiovascular system. Based on the presence of overlapping CNVs in patients with cardiovascular phenotypes in the DECIPHER database, the identification of similar CNVs in whole-exome sequencing data of 67 BAV/TAA patients and suggested topological domain involvement from Hi-C data, supportive evidence was obtained for two genes (DGCR6 and TBX20) of the seven initially validated CNVs. A rare variant burden analysis using next-generation sequencing data from 637 BAV/TAA patients was performed for these two candidate genes. This revealed a suggestive genetic role for TBX20 in BAV/TAA aetiology, further reinforced by segregation of a rare TBX20 variant with the phenotype within a BAV/TAA family. To conclude, our results do not confirm a significant contribution for deleterious CNVs in BAV/TAA as only one potentially pathogenic CNV (1.05%) was identified. We cannot exclude the possibility that BAV/TAA is occasionally attributed to causal CNVs though, or that certain CNVs act as genetic risk factors by creating a sensitised background for BAV/TAA. Finally, accumulative evidence for TBX20 involvement in BAV/TAA aetiology underlines the importance of this transcription factor in cardiovascular disease.
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Registered trials
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