ArticleClinica chimica acta; international journal of clinical chemistry2011
A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.
Article in Clinica chimica acta; international journal of clinical chemistry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 3 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- [Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Pooled it
- Associations of NKX2-5 Genetic Polymorphisms with the Risk of Congenital Heart Disease: A Meta-analysis.Pediatric cardiology · 2016Pooled it
- Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.PloS one · 2013Pooled it
- LncRNA-induced lysosomal localization of NHE1 promotes increased lysosomal pH in macrophages leading to atherosclerosis.The Journal of biological chemistry · 2025Article
- A Novel Missense Heterozygous Mutation inJournal of pediatric genetics · 2024Article
- Effect of maternal pregestational diabetes mellitus on congenital heart diseases.World journal of pediatrics : WJP · 2023Review
- A NovelJournal of clinical medicine · 2022Article
- NKX2-5 variants screening in patients with atrial septal defect in Indonesia.BMC medical genomics · 2022Article
- Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.Orphanet journal of rare diseases · 2021Article
- The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2021Article
- Angiogenic factor AGGF1 acts as a tumor suppressor by modulating p53 post-transcriptional modifications and stability via MDM2.Cancer letters · 2021Article
- Left Ventricular Noncompaction Syndrome: Genetic Insights and Therapeutic Perspectives.Current cardiology reports · 2020Review
- Genetics of inherited cardiomyopathies in Africa.Cardiovascular diagnosis and therapy · 2020Review
- Association of Maternal Diabetes Mellitus and Polymorphisms of theJournal of diabetes research · 2020Article
- Extracellular Matrix Disparities in anFrontiers in cardiovascular medicine · 2020Article
- A comprehensive in silico analysis, distribution and frequency of humanJournal of cardiovascular and thoracic research · 2019Article
- Expanding the electrical phenotype ofHeartRhythm case reports · 2018Article
- Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.Journal of molecular medicine (Berlin, Germany) · 2018Review
- Electrical disorders in atrial septal defect: genetics and heritability.Journal of thoracic disease · 2018Review
- Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.BMC cardiovascular disorders · 2018Article
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Authors and funding
12 authors.
Funding
Abstract
backgroundMutations in transcription factor NKX2.5 cause congenital heart disease (CHD). We identified a CHD family with atrial septal defects (ASDs), atrioventricular block, ventricular noncompaction, syncope and sudden death. Our objective is to identify the disease-causing mutation in the CHD family.
methodsDirect DNA sequence analysis was used to identify the CHD mutation. The functional effects of the mutation were characterized by a luciferase reporter assay and immunostaining.
resultsA novel, de novo 2-bp insertion (c.512insGC) was identified in exon 2 of NKX2.5. Mutation c.512insGC co-segregates with CHD in the family, and is not present in 200 controls. Functional studies indicate that the c.512insGC mutation impedes nuclear localization of NKX2.5 and causes a total loss of transactivation activity of NKX2.5. Furthermore, no NKX2.5 mutation was identified in 125 sporadic Chinese CHD patients.
conclusions(1) NKX2.5 mutation c.512insGC is associated with ASDs, syncope and sudden death. It is the second de novo mutation identified in NKX2.5. (2) NKX2.5 mutations are rare in sporadic CHD patients. (3) This study for the first time identifies association between a NKX2.5 mutation and ventricular noncompaction. Our results significantly expand the phenotypic spectrum of NKX2.5 mutations.
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