ArticleJournal of human genetics2016
Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 37 citations in OpenAlex.
- The intersection of disorders of sex development and cardiovascular diseases.Biology of sex differences · 2026Review
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- Total Anomalous Pulmonary Venous Connections, Human Genetics.Advances in experimental medicine and biology · 2024Review
- Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.Translational pediatrics · 2023Article
- Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.Children (Basel, Switzerland) · 2023Review
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- DNA Methylation Levels of theBiology · 2022Article
- TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death.American journal of medical genetics. Part A · 2021Article
- Article
- CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease.Database : the journal of biological databases and curation · 2020Article
- TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.PloS one · 2020Article
- The Functional Polymorphism R129W in theGenetic testing and molecular biomarkers · 2019Article
- CHD4 and the NuRD complex directly control cardiac sarcomere formation.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.Omics : a journal of integrative biology · 2018Review
- A Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right Ventricle.Pediatric cardiology · 2018Article
- HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.Pediatric cardiology · 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
14 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart disease (CHD) is the most common birth defect occurring in humans and some transcriptional factors have been identified as causative. However, additional mutation analysis of these genes is necessary to develop effective diagnostic and medical treatment methods. We conducted sequence analysis of the coding regions of NKX2.5, GATA4, TBX1, TBX5, TBX20, CFC1 and ZIC3 in 111 Japanese patients with non-syndromic CHD and 9 of their relatives. All patient samples were also analyzed by multiplex ligation-dependent probe amplification using probes involved in chromosome deletion related to CHD. Five novel variations of TBX5, GATA4 and TBX20 were detected in 6 of the patients, whereas none were found in 200 controls. The TBX5 variation p.Pro108Thr, located in the T-box domain, was identified in a patient with tricuspid atresia, an exon-intron boundary variation of GATA4 (IVS4+5G>A) was detected in a Tetralogy of Fallot patient and an 8p23 microdeletion was detected in one patient with atrioventricular septal defect and psychomotor delay. A total of seven non-synonymous polymorphisms were found in the patients and controls. Accumulation of novel variations of genes involving the cardiac development may be required for better understanding of CHD.
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