ArticleBMC medical genetics2014
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 31 citations in OpenAlex.
- A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.Scientific reports · 2017Trial
- An exploratory fetal MRI study examining the impact of 22q11.2 microdeletion syndrome on early brain growth.Journal of neurodevelopmental disorders · 2025Article
- Genetics and Epigenetics in the Genesis and Development of Microtia.The Journal of craniofacial surgery · 2024Article
- Ranbp1 modulates morphogenesis of the craniofacial midline in mouse models of 22q11.2 deletion syndrome.Human molecular genetics · 2023Article
- A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome.Disease models & mechanisms · 2022Article
- Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder.Pharmacogenomics and personalized medicine · 2022Article
- 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
- A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.Journal of translational medicine · 2018Article
- Article
- Targeted Next-Generation Sequencing in Patients with Non-syndromic Congenital Heart Disease.Pediatric cardiology · 2018Article
- TBX1 loss-of-function mutation contributes to congenital conotruncal defects.Experimental and therapeutic medicine · 2018Article
- Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population.Pediatric cardiology · 2017Article
- Mutation Analysis of TBX1 in Children with Conotruncal Heart Anomalies.Indian journal of pediatrics · 2016Article
- Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.Journal of human genetics · 2016Article
- A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.Pediatric cardiology · 2015Article
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10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTBX1 and CRKL haploinsufficiency is thought to cause the cardiac phenotype of the 22q11.2 deletion syndrome. However, few unequivocal mutations of TBX1 and CRKL have been discovered in isolated conotrucal heart defects (CTDs) patients. The aim of the study was to screen the mutation of TBX1 and CRKL in isolated CTDs Chinese patients without 22q11.2 deletion and identify the pathomechanism of the missense mutations.
methodsWe enrolled 199 non-22q11.2 deletion patients with CTDs and 139 unrelated healthy controls. Gene sequencing were performed for all of them. The functional data of mutations were obtained by in vitro transfection and luciferase experiments and computer modelling.
resultsScreening of the TBX1 coding sequence identified a de novo missense mutation (c.385G → A; p.E129K) and a known polymorphism (c.928G → A; p.G310S). In vitro experiments demonstrate that the TBX1E129K variant almost lost transactivation activity. The TBX1G310S variant seems to affect the interaction of TBX1 with other factors. Computer molecular dynamics simulations showed the de novo missense mutation is likely to affect TBX1-DNA interaction. No mutation of CRKL gene was found.
conclusionsThese observations suggest that the TBX1 loss-of-function mutation may be involved in the pathogenesis of isolated CTDs. This is the first human missense mutation showing that TBX1 is a candidate causing isolated CTDs in Chinese patients without 22q11.2 deletion.
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