ArticleDNA and cell biology2013
Prevalence and spectrum of PITX2c mutations associated with congenital heart disease.
Article in DNA and cell biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 29 citations in OpenAlex.
- Elektra-Qki and Alien-Wt1 lncRNA-protein interaction controls myocardial ion channel expression and epicardial EMT during heart development in mice.Cellular and molecular life sciences : CMLS · 2026Article
- In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.Biochemical genetics · 2025Article
- UNC-30/PITX coordinates neurotransmitter identity with postsynaptic GABA receptor clustering.Development (Cambridge, England) · 2024Article
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
- Pitx genes in development and disease.Cellular and molecular life sciences : CMLS · 2021Review
- Mechanisms underlying pro-arrhythmic abnormalities arising from Pitx2-induced electrical remodelling: an in silico intersubject variability study.Annals of translational medicine · 2021Article
- PITX2 upregulation increases the risk of chronic atrial fibrillation in a dose-dependent manner by modulatingAnnals of translational medicine · 2020Article
- Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.PloS one · 2018Article
- Multiple Roles of Pitx2 in Cardiac Development and Disease.Journal of cardiovascular development and disease · 2017Review
- Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.BMC medical genetics · 2017Article
- Analysis of PI3K pathway components in human cancers.Oncology letters · 2016Article
- A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.Pediatric cardiology · 2015Article
- Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.Cold Spring Harbor perspectives in medicine · 2015Review
- PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.PloS one · 2015Article
- Paired-like homeodomain 2: a novel therapeutic target for atrial fibrillation?Frontiers in genetics · 2014Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart disease (CHD) is the most common form of birth defect and is the leading noninfectious cause of infant death. A growing body of evidence demonstrates that genetic risk factors are involved in the pathogenesis of CHD. However, CHD is a genetically heterogeneous disease and the genetic defects underlying CHD in an overwhelming majority of patients remain unclear. In this study, the whole coding region and splice junction sites of the PITX2c gene, which encodes variant 3 of paired-like homeodomain transcription factor 2 crucial for normal cardiovascular morphogenesis, were sequenced in 382 unrelated patients with CHD, and 2 novel heterozygous mutations, p.W147X and p.N153D, were identified in 2 unrelated patients with CHD, respectively, including a 1-year-old male patient with double outlet right ventricle in combination with ventricular septal defect and a 4-year-old female patient with ventricular septal defect. The mutations were absent in 400 control chromosomes and were both predicted to be disease-causing by MutationTaster. Multiple alignments of PITX2c proteins across species displayed that the altered amino acids were completely conserved evolutionarily. Functional analysis revealed that the mutated PITX2c proteins were associated with a significantly reduced transactivational activity compared with their wild-type counterpart. These findings provide a novel insight into the molecular mechanisms implicated in CHD, suggesting potential implications for the antenatal prophylaxis and allele-specific treatment of CHD.
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