ArticlePediatric research2014
Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.
Article in Pediatric research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01192048 (Genetic Testing of Individuals and Families With Congenital Heart Disease), which is not on this map. Cited by 49 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.
Genetic Testing of Individuals and Families With Congenital Heart Disease
Who cites it
49 citing papers in PubMed, 87 citations in OpenAlex.
- Genetics of Congenital Heart Disease.Clinics in perinatology · 2025Review
- Bicuspid Aortic Valve and Sudden Cardiac Death.Life (Basel, Switzerland) · 2025Review
- Chromosomal Location and Identification ofDiagnostics (Basel, Switzerland) · 2025Article
- Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects.International journal of molecular sciences · 2025Article
- Identification of congenital aortic valve malformations in juvenile natriuretic peptide receptor 2-deficient mice using high-frequency ultrasound.American journal of physiology. Heart and circulatory physiology · 2024Article
- In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024Review
- Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.Pediatric research · 2024Article
- Human Genetics of Semilunar Valve and Aortic Arch Anomalies.Advances in experimental medicine and biology · 2024Review
- AP-1 signaling modulates cardiac fibroblast stress responses.Journal of cell science · 2023Article
- A Comprehensive Review of Management Strategies for Bicuspid Aortic Valve (BAV): Exploring Epidemiology, Aetiology, Aortopathy, and Interventions in Light of Recent Guidelines.Journal of cardiovascular development and disease · 2023Review
- Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.Nature communications · 2023Article
- Congenital aortic valve stenosis: from pathophysiology to molecular genetics and the need for novel therapeutics.Frontiers in cardiovascular medicine · 2023Review
- SMAD6-deficiency in human genetic disorders.NPJ genomic medicine · 2022Review
- A SOX17-PDGFB signaling axis regulates aortic root development.Nature communications · 2022Article
- Two MicroRNAs, miR-34a and miR-125a, Are Implicated in Bicuspid Aortopathy by Modulating Metalloproteinase 2.Biochemical genetics · 2022Article
- Genomic frontiers in congenital heart disease.Nature reviews. Cardiology · 2022Review
- Excess Provisional Extracellular Matrix: A Common Factor in Bicuspid Aortic Valve Formation.Journal of cardiovascular development and disease · 2021Review
- Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.HGG advances · 2021Article
- Genetic and Developmental Contributors to Aortic Stenosis.Circulation research · 2021Review
- In Vivo and In Vitro Genetic Models of Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2021Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundBicuspid aortic valve (BAV) is the most common type of congenital heart disease (CHD) and has a proposed genetic etiology. BAV is categorized by cusp fusion, with right-left (R-L) cusp fusion being associated with additional CHD, and right-noncoronary cusp (R-NC) fusion being associated with aortic valve dysfunction. Loss of murine Gata5, which encodes a cardiac transcription factor, results in a partially penetrant R-NC BAV, and we hypothesize that mutations in GATA5 are associated with R-NC BAV in humans.
methodsA cohort of 78 BAV patients (50 with isolated BAV and 28 with associated aortic coarctation) was analyzed using Sanger sequencing to identify GATA5 sequence variants. Biochemical assays were performed to identify functional deficits of identified sequence variants.
resultsWe identified two rare heterozygous nonsynonymous variants, p.Gln3Arg and p.Leu233Pro, for a frequency of 2.6% (2/78). Both individuals with nonsynonymous variants had BAV and aortic coarctation, one R-L and one R-NC subtype. Of the nonsynonymous variants, only p.Gln3Arg demonstrated decreased transcriptional activity in vitro.
conclusionRare sequence variants in GATA5 are associated with human BAV. Our findings suggest a genotype-phenotype correlation in regards to associated CHD but not cusp fusion.
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Registered trials
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