ArticlePloS one2014
Novel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4.
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 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Establishment of Relational Model of Congenital Heart Disease Markers and GO Functional Analysis of the Association between Its Serum Markers and Susceptibility Genes.Computational and mathematical methods in medicine · 2016Pooled it
- Familial Dilated Cardiomyopathy: A Novel MED9 Short Isoform Identification.International journal of molecular sciences · 2024Article
- Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.Andrology · 2022Article
- Towards Understanding the Gene-Specific Roles of GATA Factors in Heart Development: Does GATA4 Lead the Way?International journal of molecular sciences · 2022Review
- Genetic insights into non-syndromic Tetralogy of Fallot.Frontiers in physiology · 2022Review
- Gene-by-gene interactions associated with the risk of conotruncal heart defects.Molecular genetics & genomic medicine · 2020Article
- CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease.Database : the journal of biological databases and curation · 2020Article
- Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.Molecular genetics & genomic medicine · 2019Article
- Molecular discoveries and treatment strategies by direct reprogramming in cardiac regeneration.Translational research : the journal of laboratory and clinical medicine · 2019Review
- Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.Omics : a journal of integrative biology · 2018Review
- Identification of ZFPM2 mutations in sporadic conotruncal heart defect patients.Molecular genetics and genomics : MGG · 2018Article
- TBX1 loss-of-function mutation contributes to congenital conotruncal defects.Experimental and therapeutic medicine · 2018Article
- A novel missense mutation in the ALPL gene causes dysfunction of the protein.Molecular medicine reports · 2017Article
- Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population.Pediatric cardiology · 2017Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Conotruncal heart defect (CTD) is a complex form of congenital heart disease and usually has a poor prognosis. ZFPM2/FOG2 encodes a transcription cofactor that interacts with GATA4 to regulate cardiac development. This regulation has been established in knockout mouse models that display a range of heart malformations, especially CTD. Although previous studies have identified several missense variants in ZFPM2/FOG2 that may cause CTD, it remains unclear whether they are involved in CTD pathogenesis because the study populations were limited and the functional status was unknown. In this report, we screened a larger CTD population, which comprised 145 tetralogy of Fallot (TOF), 37 double-outlet ventricle outflow (DORV), and 18 transposition of the great artery (TGA), to investigate exon mutations as well as copy number variations in ZFPM2/FOG2. Four variants (p.V339I in one DORV, p.A426T in one DORV, p.M703L in three TOF, p.T843M in one TOF) were found in six patients, of which two are reported here for the first time. No copy number variations of the gene were detected. GST pull-down assays demonstrated that all potentially deleterious variants, including those previously reported, did not impair the interaction with GATA4, except for variant p.M544I and p.K737E, which subtly impaired the binding. Thus, these missense variants may be involved in other mechanisms underlying CTD or may be unrelated to CTD occurrence.
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