ArticlePloS one2014
Functionally significant, rare transcription factor variants in tetralogy of Fallot.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 64 citations in OpenAlex.
- Heart Morphogenesis Requires Smyd1b for Proper Incorporation of the Second Heart Field in Zebrafish.Genes · 2025Article
- Genome-Wide Expression Profiling and Phenotypic Analysis of Downstream Targets Identify the Fox Transcription Factor Jumeau as a Master Regulator of Cardiac Progenitor Cell Division.International journal of molecular sciences · 2024Article
- Discovery of myosin light chain kinase gene variant in a patient with tetralogy of Fallot suffering aortic dissection: Implications for pathogenesis and the role of family and population screening.International journal of cardiology. Congenital heart disease · 2024Article
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
- The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.Orphanet journal of rare diseases · 2023Review
- Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.Frontiers in cardiovascular medicine · 2023Article
- Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family.The American journal of medicine · 2022Article
- Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant ofFrontiers in cardiovascular medicine · 2022Article
- Genetic insights into non-syndromic Tetralogy of Fallot.Frontiers in physiology · 2022Review
- 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
- Deletion ofCold Spring Harbor molecular case studies · 2021Article
- In Vivo and In Vitro Genetic Models of Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2021Review
- The Drosophila Forkhead/Fox transcription factor Jumeau mediates specific cardiac progenitor cell divisions by regulating expression of the kinesin Nebbish.Scientific reports · 2021Article
- Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects.The Eurasian journal of medicine · 2020Article
- Delta-like ligand 4-mediated Notch signaling controls proliferation of second heart field progenitor cells by regulating Fgf8 expression.Development (Cambridge, England) · 2020Article
- Genetic Basis of Human Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2020Article
- Conditional inactivation of Foxc1 and Foxc2 in neural crest cells leads to cardiac abnormalities.Genesis (New York, N.Y. : 2000) · 2020Article
- Dysregulation of Notch signaling in cardiac mesenchymal cells of patients with tetralogy of Fallot.Pediatric research · 2020Article
- The genetics of isolated congenital heart disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
objectiveRare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF). METHODS AND
resultsWe sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1) in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network. SIGNIFICANCE: This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3-13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.
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