ArticlePediatric cardiology2018
A Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right Ventricle.
Article in Pediatric cardiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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.
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Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Hypoplastic Left Heart Syndrome Cardiomyocytes Exhibit Intrinsic Stress Vulnerabilities and Augmented Stress Responses in vitro.Stem cell reviews and reports · 2026Article
- A multi-omic single-cell landscape of perinatal mouse skin maps lineage specification and reveals shared dynamics in human fetal skin.Experimental & molecular medicine · 2026Article
- MEF2C networks in heart tube development.Genes & development · 2025Review
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Discovery ofAmerican journal of translational research · 2024Article
- Myocardial Fibrosis in Congenital Heart Disease and the Role of MRI.Radiology. Cardiothoracic imaging · 2023Review
- Role of MEF2C in the Endothelial Cells Derived from Human Induced Pluripotent Stem Cells.Stem cells (Dayton, Ohio) · 2023Article
- Molecular genetic mechanisms of congenital heart disease.Current opinion in genetics & development · 2022Review
- Delving into the Molecular World of Single Ventricle Congenital Heart Disease.Current cardiology reports · 2022Review
- AnFrontiers in cardiovascular medicine · 2022Article
- Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies.Balkan journal of medical genetics : BJMG · 2021Article
- Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.Translational pediatrics · 2021Review
- Genetics of Transposition of Great Arteries: Between Laterality Abnormality and Outflow Tract Defect.Journal of cardiovascular translational research · 2021Review
- Understanding Heart Field Progenitor Cells for Modeling Congenital Heart Diseases.Current cardiology reports · 2021Review
- Mef2c factors are required for early but not late addition of cardiomyocytes to the ventricle.Developmental biology · 2021Article
- Narrative review of assessing the surgical options for double outlet right ventricle.Translational pediatrics · 2021Review
- ISL1 loss-of-function mutation contributes to congenital heart defects.Heart and vessels · 2019Article
- MEF2 and the Right Ventricle: From Development to Disease.Frontiers in cardiovascular medicine · 2019Review
- Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.BMC medical genetics · 2018Article
Corrections and comments
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Authors and funding
5 authors at 5 institutions in 1 country.
Funding
Abstract
Congenital heart defect (CHD) represents the most prevalent birth defect, and accounts for substantial morbidity and mortality in humans. Aggregating evidence demonstrates the genetic basis for CHD. However, CHD is a heterogeneous disease, and the genetic determinants underlying CHD in most patients remain unknown. In the present study, a cohort of 186 unrelated cases with CHD and 300 unrelated control individuals were recruited. The coding exons and flanking introns of the MEF2C gene, which encodes a transcription factor crucial for proper cardiovascular development, were sequenced in all study participants. The functional effect of an identified MEF2C mutation was characterized using a dual-luciferase reporter assay system. As a result, a novel heterozygous MEF2C mutation, p.R15C, was detected in an index patient with congenital double outlet right ventricle (DORV) as well as ventricular septal defect. Analysis of the proband's pedigree showed that the mutation co-segregated with CHD with complete penetrance. The missense mutation, which changed the evolutionarily conserved amino acid, was absent in 300 control individuals. Functional deciphers revealed that the mutant MEF2C protein had a significantly decreased transcriptional activity. Furthermore, the mutation significantly reduced the synergistic activation between MEF2C and GATA4, another transcription factor linked to CHD. This study firstly associates MEF2C loss-of-function mutation with DORV in humans, which provides novel insight into the molecular pathogenesis of CHD, suggesting potential implications for genetic counseling and personalized treatment of CHD patients.
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Registered trials
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