ArticleJournal of translational medicine2021
Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.
Article in Journal of translational medicine, 2021. 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, 10 citations in OpenAlex.
- Astragalus polysaccharide protects against cardiac injury in a tnnt2a mutant zebrafish model of dilated cardiomyopathy.BMC complementary medicine and therapies · 2025Article
- Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.Circulation. Genomic and precision medicine · 2024Review
- [Research progress on the expression of theZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.JCI insight · 2023Article
- Identification ofDiagnostics (Basel, Switzerland) · 2023Article
- Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report.Frontiers in cardiovascular medicine · 2023Article
- KLF13 Loss-of-Function Mutations Underlying Familial Dilated Cardiomyopathy.Journal of the American Heart Association · 2022Article
- Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.Annals of translational medicine · 2022Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited dilated cardiomyopathy (DCM) contributes to approximately 25% of idiopathic DCM cases, and the proportion is even higher in familial DCM patients. Most studies have focused on familial DCM, whereas the genetic profile of sporadic DCM in Chinese patients remains unknown.
methodsBetween June 2018 and September 2019, 24 patients diagnosed with idiopathic DCM without a family history were included in the present study. All patients underwent genetic screening for 80 DCM-related genes using targeted next-generation sequencing.
resultsBy in silico analysis, 10 of 99 detected variants were considered pathogenic or likely-pathogenic, including seven TTN truncating variants (TTNtv), one in-frame deletion in TNNT2, one missense mutation in RBM20, and one frameshift deletion variant in FLNC. Of these variants, eight are reported for the first time.
conclusionsUsing targeted next-generation sequencing, potential genetic causes of idiopathic DCM were identified. Sarcomere mutations remained the most common genetic cause of inherited DCM in this cohort of sporadic Chinese DCM.
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