ArticleMedical science monitor : international medical journal of experimental and clinical research2012
Novel GATA4 mutations in patients with congenital ventricular septal defects.
Article in Medical science monitor : international medical journal of experimental and clinical research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- The Use of Next-Generation Sequencing in Personalized Medicine.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Article
- Human Genetics of Congenital Heart Defects.Advances in experimental medicine and biology · 2024Review
- Gestational palmitic acid suppresses embryonic GATA-binding protein 4 signaling and causes congenital heart disease.Cell reports. Medicine · 2023Article
- Novel Point Mutations in 3'-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects.Current medical science · 2022Article
- Article
- 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
- A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect.Pediatric cardiology · 2019Article
- GATA4 molecular screening and assessment of environmental risk factors in a Moroccan cohort with tetralogy of Fallot.African health sciences · 2018Article
- Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family.Current medical science · 2018Article
- RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects.Disease models & mechanisms · 2018Article
- GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.Frontiers in endocrinology · 2018Article
- Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.Molecular medicine reports · 2017Review
- Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.Nature communications · 2017Article
- Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series.Journal of clinical and diagnostic research : JCDR · 2017Article
- Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.Cold Spring Harbor perspectives in medicine · 2014Review
- GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect.Pediatric cardiology · 2013Article
- Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot.DNA and cell biology · 2012Article
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
backgroundVentricular septal defect (VSD) is the most prevalent type of congenital heart disease and is a major cause of substantial morbidity and mortality in infants. Accumulating evidence implicates genetic defects, especially in cardiac transcription factors, in the pathogenesis of VSD. However, VSD is genetically heterogeneous and the genetic determinants for VSD in most patients remain to be identified. MATERIAL/
methodsA cohort of 230 unrelated patients with congenital VSD was included in the investigation. A total of 200 unrelated ethnically matched healthy individuals were recruited as controls. The entire coding region of GATA4, a gene encoding a zinc-finger transcription factor essential for normal cardiac morphogenesis, was sequenced initially in 230 unrelated VSD patients. The available relatives of the mutation carriers and 200 control subjects were subsequently genotyped for the presence of identified mutations.
resultsFour heterozygous missense GATA4 mutations of p.Q55R, p.G96R, p.N197S, and p.K404R were identified in 4 unrelated patients with VSD. These mutations were not detected in 200 control individuals nor described in the human SNP database. Genetic analysis of the relatives of the mutation carriers showed that in each family the mutation co-segregated with VSD.
conclusionsThese findings expand the mutation spectrum of GATA4 linked to VSD and provide new insight into the molecular etiology responsible for VSD, suggesting potential implications for the genetic diagnosis and gene-specific therapy for VSD.
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