ArticlePediatric cardiology2019
Search of Somatic Mutations of NKX2-5 and GATA4 Genes in Chinese Patients with Sporadic Congenital Heart Disease.
Article in Pediatric cardiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Combined effects of maternal periconceptional environmental exposures and infant cardiac transcription factor polymorphisms on congenital heart disease risk.Annals of medicine · 2026Article
- SomaticExperimental and therapeutic medicine · 2024Article
- Wnt signaling pathway inhibitor promotes mesenchymal stem cells differentiation into cardiac progenitor cellsWorld journal of stem cells · 2023Article
- Article
- Association between single-nucleotide polymorphisms ofOpen life sciences · 2022Article
- The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2021Article
- Association ofBalkan journal of medical genetics : BJMG · 2021Article
- BVES downregulation in non-syndromic tetralogy of fallot is associated with ventricular outflow tract stenosis.Scientific reports · 2020Article
- Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Congenital heart disease (CHD) usually occurs sporadically, with only a minority of cases associated with a known genetic mechanism. Cardiac-specific transcription factors NKX2-5 and GATA4 play key roles in the mammalian heart development, and the affected cardiac tissues of CHD patients are prone to somatic mutations which thus participate in the pathogenesis of CHD. We collected 98 patients with sporadic CHD, extracted genomic DNA from cardiac tissues and blood, and then screened NKX2-5 and GATA4 genes using PCR-direct sequence analysis. A novel heterozygous missense mutation (c.907G > A, p.V303I) of NKX2-5 gene was identified in a patient with tetralogy of Fallots. Functional assay revealed that this mutant was associated with significantly reduced transcriptional activity. In addition, we found two known single-nucleotide polymorphisms (SNPs) (rs2277923, rs3729753) in NKX2-5 and two known SNPs (rs56166237, rs3729856) in GATA4. All variations identified in cardiac tissues were consistent with those of peripheral blood, and no somatic mutations were found in cardiac tissues. Our study shows no evidence of NKX2-5 and GATA4 somatic mutations playing a role in the pathogenesis of sporadic CHD.
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