ArticleMolecular genetics & genomic medicine2021
Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 8 citations in OpenAlex.
- Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Exploring genetic mapping and co-expression patterns to illuminate significance of Tbx20 in cardiac biology.Transgenic research · 2025Article
- Molecular Pathways and Animal Models of Tricuspid Atresia and Univentricular Heart.Advances in experimental medicine and biology · 2024Review
- Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family.Molecular genetics & genomic medicine · 2021Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
backgroundCardiac valvulogenesis is a highly conserved process among vertebrates and cause unidirectional flow of blood in the heart. It was precisely regulated by signal pathways such as VEGF, NOTCH, and WNT and transcriptional factors such as TWIST1, TBX20, NFATC1, and SOX9. Tricuspid atresia refers to morphological deficiency of the valve and confined right atrioventricular traffic due to tricuspid maldevelopment, and is one of the most common types of congenital valve defects.
methodsWe recruited a healthy couple with two fetuses aborted due to tricuspid atresia and identified related gene mutations using whole-exome sequencing. We then discussed the pathogenic significance of this mutation by bioinformatic and functional analyses.
resultsPROVEAN, PolyPhen, MutationTaster, and HOPE indicated the mutation could change the protein function and cause disease; Western blotting showed the expression of NFATC1 c.964G>A mutation was lower than the wild type. What's more, dual-luciferase reporter assay showed the transcriptional activity of NFATC1 was impact by mutation and the expression of downstream DEGS1 was influenced.
conclusionTaken together, the c.964G>A mutation might be pathological and related to the occurrence of disease. Our research tended to deepen the understanding of etiology of tricuspid atresia and gene function of NFATC1, and provide some references or suggestions for genetic diagnosis of tricuspid atresia.
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