ArticleActa Cardiologica Sinica2019
Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.
Article in Acta Cardiologica Sinica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models.Pharmaceuticals (Basel, Switzerland) · 2024Review
- AI-Assisted Detection of Biomarkers by Sensors and Biosensors for Early Diagnosis and Monitoring.Biosensors · 2024Review
- Article
- A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing.BMC medical genomics · 2022Article
- Case Report: A novel desmoplakin mutation in a taiwanese woman with familial dilated cardiomyopathy that necessitated heart transplantation.Frontiers in genetics · 2022Article
- Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally IdentifiedCirculation. Genomic and precision medicine · 2021Article
- The role of Asprosin in patients with dilated cardiomyopathy.BMC cardiovascular disorders · 2020Article
- Renin-Angiotensin System Inhibitors and COVID-19: Potential Therapeutics Rather Than Perpetrators.Acta Cardiologica Sinica · 2020Article
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundApproximately one-third of cases of dilated cardiomyopathy (DCM) are caused by genetic mutations. With new sequencing technologies, numerous variants have been associated with this inherited cardiomyopathy, however the prevalence and genotype-phenotype correlations in different ethnic cohorts remain unclear. This study aimed to investigate the variants in Chinese DCM patients and correlate them with clinical presentations and prognosis. METHODS AND
resultsFrom September 2013 to December 2016, 70 index patients underwent DNA sequencing for 12 common disease-causing genes with next generation sequencing. Using a bioinformatics filtering process, 12 rare truncating variants (7 nonsense variants, 4 frameshift variants, and 1 splice site variant) and 29 rare missense variants were identified. Of these, 3 patients were double heterozygotes and 10 patients were compound heterozygotes. Overall, 47.1% (33/70) of the index patients had the seputatively pathogenic variants. The majority (33/41, 80.4%) of these variants were located in titin (
conclusionsSeveral new rare variants were identified in a Chinese population in this study, indicating that there are ethnic differences in genetic mutations in DCM patients.
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