ArticleGenetic testing and molecular biomarkers2012
A novel variation of PLAGL1 in Chinese patients with isolated ventricular septal defect.
Article in Genetic testing and molecular biomarkers, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 2 of them syntheses that pooled it.
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8 citing papers in PubMed, 2 syntheses or guidelines pooled it, 15 citations in OpenAlex.
- Meta-Prediction of MTHFR Gene Polymorphism and Air Pollution on the Risks of Congenital Heart Defects Worldwide: A Transgenerational Analysis.International journal of environmental research and public health · 2018Pooled it
- Association between MTHFR polymorphisms and congenital heart disease: a meta-analysis based on 9,329 cases and 15,076 controls.Scientific reports · 2014Pooled it
- A Comprehensive Review of Canine and Feline Ventricular Septal Defects-From Pathogenesis to Long-Term Follow-Up.Animals : an open access journal from MDPI · 2025Review
- Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.BMC genomics · 2025Article
- Polycomb protein RYBP activates transcription factorOpen biology · 2023Article
- Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.Journal of cellular and molecular medicine · 2020Article
- Corrective surgery alters plasma protein profiling in congenital heart diseases and clinical perspectives.American journal of translational research · 2020Article
- Identification of two novel mutations of the HOMEZ gene in Chinese patients with isolated ventricular septal defect.Genetic testing and molecular biomarkers · 2013Article
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsVentricular septal defect (VSD) is the most common congenital heart disease (CHD). A number of genetic studies have linked the gene of PLAGL1 to the etiology of CHD. The present study aimed to identify potential pathogenic mutations for PLAGL1 and to provide insights into the etiology of isolated VSD.
methodsCase-control mutational analysis was performed in 300 patients with isolated VSD and 300 healthy controls. Two protein-coding extons of PLAGL1 and their partial flanking intron sequences were amplified by polymerase chain reaction and sequenced on an ABI3730 Automated Sequencer. CLC workbench software was used to compare the conservatism of PLAGL1 protein with other multiple species.
resultsNeither missense nor frame-shift mutations were detected in two protein-coding extons of PLAGL1. But a novel synonymous variation (c.486A>G, p. E162E) was detected in protein-coding exon-2. The glutamic that translated with the mutational codon is conservative when compared with other species.
conclusionsWe detected a synonymous variation in the protein-coding exon-2 of PLAGL1 in isolated VSD patients. It is possible that the etiology of isolated VSD might not be directly linked with this mutation, but might be associated with other patterns of gene expression regulation in PLAGL1, such as in the methylation-dependent manner.
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