ArticleBMC cardiovascular disorders2018
Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.
Article in BMC cardiovascular disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- Trial
- MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.Pediatric cardiology · 2026Article
- Identifying Novel Therapeutic Opportunities for Dilated Cardiomyopathy: A Bioinformatics Approach to Drug Repositioning and Herbal Medicine Prediction.Current pharmaceutical biotechnology · 2026Article
- Article
- Evaluating sex-specific responses to western diet across the lifespan: impact on cardiac function and transcriptomic signatures in C57BL/6J mice at 530 and 640/750 days of age.Cardiovascular diabetology · 2024Article
- Pathological Changes and Metabolic Adaptation in the Myocardium of Rats in Response to Chronic Variable Mild Stress.International journal of molecular sciences · 2024Article
- Exploring novel biomarkers in dilated cardiomyopathy‑induced heart failure by integrated analysis andExperimental and therapeutic medicine · 2023Article
- GeneCompete: an integrative tool of a novel union algorithm with various ranking techniques for multiple gene expression data.PeerJ. Computer science · 2023Article
- Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients.Molecular genetics & genomic medicine · 2022Article
- Significance of α-Myosin Heavy Chain (Journal of cardiovascular development and disease · 2022Article
- Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease.Molecular genetics & genomic medicine · 2022Article
- Application of CRISPR-Cas9 gene editing for congenital heart disease.Clinical and experimental pediatrics · 2021Article
- Advances of exosome isolation techniques in lung cancer.Molecular biology reports · 2020Review
- Identification of candidate genes in ischemic cardiomyopathy by gene expression omnibus database.BMC cardiovascular disorders · 2020Article
- Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.Molecular genetics & genomic medicine · 2020Article
- A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve.Genetics and molecular biology · 2020Article
- Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.BMC medical genomics · 2019Article
- Regulation of the microRNA profiles related to Myh7 and Myh6 in myocardial ischemia through proanthocyanidins and different intensity exercise training.Avicenna journal of phytomedicineArticle
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMyosin VI, encoded by MYH6, is expressed dominantly in human cardiac atria and plays consequential roles in cardiac muscle contraction and comprising the cardiac muscle thick filament. It has been reported that the mutations in the MYH6 gene associated with sinus venosus atrial septal defect (ASD type III), hypertrophic (HCM) and dilated (DCM) cardiomyopathies.
methodsTwo patients in an Iranian family have been identified who affected to Congenital Heart Disease (CHD). The male patient, besides CHD, shows that the thyroglossal sinus, refractive errors of the eye and mitral stenosis. The first symptoms emerged at the birth and diagnosis based on clinical features was made at about 5 years. The family had a history of ASD. For recognizing mutated gene (s), whole exome sequencing (WES) was performed for the male patient and variants were analyzed by autosomal dominant inheritance mode.
resultsEventually, by several filtering processes, a mutation in MYH6 gene (NM_002471.3), c.3835C > T; R1279X, was identified as the most likely disease-susceptibility variant and then confirmed by Sanger sequencing in the family. The mutation frequency was checked out in the local databases. This mutation results in the elimination of the 660 amino acids in the C-terminal of Myosin VI protein, including the vital parts of the coiled-coil structure of the tail domain.
conclusionsOur study represents the first case of Sinus venosus defect caused directly by MYH6 stop codon mutation. Our data indicate that by increase haploinsufficiency of myosin VI, c.3835C > T mutation with reduced penetrance could be associated with CHD.
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