ArticlePediatric cardiology2013
GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect.
Article in Pediatric cardiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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, 52 citations in OpenAlex.
- Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects.International journal of molecular sciences · 2025Article
- Undetected Neuromuscular Disease in Patients after Heart Transplantation.International journal of molecular sciences · 2024Article
- A Combined HumanFrontiers in pharmacology · 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
- Genetic and epigenetic mechanisms in the development of congenital heart diseases.World journal of pediatric surgery · 2021Review
- Genetic Basis of Human Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2020Article
- The genetics of isolated congenital heart disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Genetic Contribution to Congenital Heart Disease (CHD).Pediatric cardiology · 2020Review
- HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.Pediatric cardiology · 2017Article
- Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.Human genetics · 2017Article
- GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.Molecular genetics & genomic medicine · 2016Article
- A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.Pediatric cardiology · 2015Article
- A novel NKX2.6 mutation associated with congenital ventricular septal defect.Pediatric cardiology · 2015Article
- Autophagy is involved in ethanol-induced cardia bifida during chick cardiogenesis.Cell cycle (Georgetown, Tex.) · 2015Article
- Novel and functional DNA sequence variants within the GATA5 gene promoter in ventricular septal defects.World journal of pediatrics : WJP · 2014Article
- Interpreting human genetic variation with in vivo zebrafish assays.Biochimica et biophysica acta · 2014Review
- Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.Pediatric research · 2014Article
- Prevalence and spectrum of PITX2c mutations associated with congenital heart disease.DNA and cell biology · 2013Article
- Genetics of congenital heart disease: the glass half empty.Circulation research · 2013Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The ventriculoseptal defect (VSD) is the most common form of congenital heart disease and a leading noninfectious cause of infant mortality. Growing evidence demonstrates that genetic defects are associated with congenital VSD. Nevertheless, VSD is genetically heterogeneous, and the molecular basis for VSD in an overwhelming majority of patients remains unknown. In this study, the whole coding region of GATA5, a gene encoding a zinc finger transcription factor crucial for normal cardiogenesis, was sequenced in 120 unrelated patients with VSD. The available relatives of the patient harboring the identified mutation and 200 unrelated individuals used as controls were subsequently genotyped. The causative potential of a sequence variation was evaluated by MutationTaster, and the functional effect of the mutation was characterized using a luciferase reporter assay system. As a result, a novel heterozygous GATA5 mutation, p.L199V, was identified in a patient with VSD, which was absent in 400 control chromosomes. Genetic analysis of the mutation carrier's available family members showed that the substitution co-segregated with VSD transmitted in an autosomal dominant pattern. The p.L199V variation was automatically predicted to be disease causing, and the functional analysis showed that the GATA5 p.L199V mutant protein was associated with significantly reduced transcriptional activation compared with its wild-type counterpart. To the best of the authors' knowledge, this is the first report on the link of functionally compromised GATA5 to human VSD, suggesting potential implications for the early prophylaxis and personalized treatment of VSD.
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