ArticlePediatric cardiology2015
A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.
Article in Pediatric cardiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 44 citations in OpenAlex.
- Maternal-fetal microRNA axis in congenital heart disease: implications for tetralogy of Fallot.Frontiers in cardiovascular medicine · 2026Review
- 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
- Human Genetics of Ventricular Septal Defect.Advances in experimental medicine and biology · 2024Article
- Post-Transcriptional Regulation of Molecular Determinants during Cardiogenesis.International journal of molecular sciences · 2022Review
- The TBX1/miR-193a-3p/TGF-Oxidative medicine and cellular longevity · 2022Article
- Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation.Orphanet journal of rare diseases · 2021Article
- Association ofBalkan journal of medical genetics : BJMG · 2021Article
- Connection of GLI1 variants to congenital heart disease susceptibility: A case-control study.Medicine · 2020Observational
- HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.American journal of human genetics · 2019Article
- Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2018Article
- Molecular genetics of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- Article
- Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.Human molecular genetics · 2018Article
- A Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right Ventricle.Pediatric cardiology · 2018Article
- Novel heterozygous mutation inClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2018Article
- TBX1 loss-of-function mutation contributes to congenital conotruncal defects.Experimental and therapeutic medicine · 2018Article
- Pulmonary endothelial cell DNA methylation signature in pulmonary arterial hypertension.Oncotarget · 2017Article
- HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.Pediatric cardiology · 2017Article
- MEF2C loss-of-function mutation contributes to congenital heart defects.International journal of medical sciences · 2017Article
- TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus.International journal of medical sciences · 2017Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart disease (CHD) is the most prevalent type of birth defect in humans and is the leading non-infectious cause of infant death worldwide. There is a growing body of evidence demonstrating that genetic defects play an important role in the pathogenesis of CHD. However, CHD is a genetically heterogeneous disease and the genetic basis underpinning CHD in an overwhelming majority of patients remains unclear. In this study, the coding exons and splice junction sites of the TBX1 gene, which encodes a T-box homeodomain transcription factor essential for proper cardiovascular morphogenesis, were sequenced in 230 unrelated children with CHD. The available family members of the index patient carrying an identified mutation and 200 unrelated ethnically matched healthy individuals used as controls were subsequently genotyped for TBX1. The functional effect of the TBX1 mutation was predicted by online program MutationTaster and characterized by using a dual-luciferase reporter assay system. As a result, a novel heterozygous TBX1 mutation, p.Q277X, was identified in an index patient with double outlet right ventricle (DORV) and ventricular septal defect (VSD). Genetic analysis of the proband's available relatives showed that the mutation co-segregated with CHD transmitted in an autosomal dominant pattern with complete penetrance. The nonsense mutation, which was absent in 400 control chromosomes, altered the amino acid that was completely conserved evolutionarily across species and was predicted to be disease-causing by MutationTaster. Biochemical analysis revealed that Q277X-mutant TBX1 lost transcriptional activating function when compared with its wild-type counterpart. This study firstly associates TBX1 loss-of-function mutation with enhanced susceptibility to DORV and VSD in humans, which provides novel insight into the molecular mechanism underlying CHD and suggests potential implications for the development of new preventive and therapeutic strategies for CHD.
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