ArticleInternational journal of medical sciences2014
Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation.
Article in International journal of medical sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 40 citations in OpenAlex.
- NovelBiomedicines · 2026Article
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- Functional mutations in the thyroid-stimulating hormone receptor in natural stickleback populations at sites identical to human disease-causing mutations.BMC ecology and evolution · 2025Article
- Discovery ofBiology · 2023Article
- Nr2f1a maintains atrialeLife · 2023Article
- A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?Archives of endocrinology and metabolism · 2023Article
- Genetic and non-genetic risk factors associated with atrial fibrillation.Life sciences · 2022Review
- Atrial and Sinoatrial Node Development in the Zebrafish Heart.Journal of cardiovascular development and disease · 2021Review
- Genetics and Epigenetics of Atrial Fibrillation.International journal of molecular sciences · 2020Review
- Epigenetic and Transcriptional Networks Underlying Atrial Fibrillation.Circulation research · 2020Review
- A comprehensive in silico analysis, distribution and frequency of humanJournal of cardiovascular and thoracic research · 2019Article
- Expanding the electrical phenotype ofHeartRhythm case reports · 2018Article
- Genetics of Atrial Fibrillation.Journal of the American Heart Association · 2018Review
- Transcriptional regulation of the cardiac conduction system.Nature reviews. Cardiology · 2018Review
- AInternational journal of medical sciences · 2018Article
- Atrial Fibrillation Genetics: Is There a Practical Clinical Value Now or in the Future?The Canadian journal of cardiology · 2016Review
- Genomics of Atrial Fibrillation.Current cardiology reports · 2016Review
- Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation.International journal of medical sciences · 2016Article
- A novel NKX2.6 mutation associated with congenital ventricular septal defect.Pediatric cardiology · 2015Article
- The role of transcription factors in atrial fibrillation.Journal of thoracic disease · 2015Review
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atrial fibrillation (AF) is the most common form of sustained cardiac arrhythmia in humans and is responsible for substantial morbidity and mortality worldwide. Emerging evidence indicates that abnormal cardiovascular development is involved in the pathogenesis of AF. In this study, the coding exons and splice sites of the NKX2-5 gene, which encodes a homeodomain-containing transcription factor essential for cardiovascular genesis, were sequenced in 146 unrelated patients with lone AF as well as the available relatives of the mutation carriers. A total of 700 unrelated ethnically matched healthy individuals used as controls were genotyped. The disease-causing potential of the identified NKX2-5 variations was predicted by MutationTaster and PolyPhen-2. The functional characteristics of the mutant NKX2-5 proteins were analyzed using a dual-luciferase reporter assay system. As a result, two heterozygous NKX2-5 mutations, including a previously reported p.E21Q and a novel p.T180A mutation, were identified in two families with AF transmitted in an autosomal dominant pattern. The mutations co-segregated with AF in the families with complete penetrance. The detected substitutions, which altered the amino acids highly conserved evolutionarily across species, were absent in 700 control individuals and were both predicted to be causative. Functional analyses demonstrated that the NKX2-5 mutants were associated with significantly decreased transcriptional activity compared with their wild-type counterpart. The findings expand the spectrum of NKX2-5 mutations linked to AF and provide additional evidence that dysfunctional NKX2-5 may confer vulnerability to AF, suggesting the potential benefit for the early prophylaxis and personalized treatment of AF.
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