ArticleBioMed research international2015
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.
Article in BioMed research international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- Genetic heterogeneity of cardiomyopathy and its correlation with patient care.BMC medical genomics · 2023Article
- Article
- Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, WholeNeurology. Genetics · 2022Article
- Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencing.Molecular genetics & genomic medicine · 2020Article
- Exploring the Mechanism of Skeletal Muscle in a Tacrolimus-Induced Posttransplantation Diabetes Mellitus Model on Gene Expression Profiles.Journal of diabetes research · 2020Article
- Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.Scientific reports · 2018Article
- Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2017Article
- Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.International journal of molecular medicine · 2017Article
- Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.Journal of clinical laboratory analysis · 2017Article
- Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.International journal of molecular medicine · 2016Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
As a common cardiac disease mainly caused by gene mutations in sarcomeric cytoskeletal, calcium-handling, nuclear envelope, desmosomal, and transcription factor genes, inherited cardiomyopathy is becoming one of the major etiological factors of sudden cardiac death (SCD) and heart failure (HF). This disease is characterized by remarkable genetic heterogeneity, which makes it difficult to screen for pathogenic mutations using Sanger sequencing. In the present study, three probands, one with familial hypertrophic cardiomyopathy (FHCM) and two with familial dilated cardiomyopathy (FDCM), were recruited together with their respective family members. Using next-generation sequencing technology (NGS), 24 genes frequently known to be related to inherited cardiomyopathy were screened. Two hot spots (TNNI3-p.Arg145Gly, and LMNA-p.Arg190Trp) and double (LMNA-p.Arg190Trp plus MYH7-p.Arg1045His) heterozygous mutations were found to be highly correlated with familial cardiomyopathy. FDCM patients with doubly heterozygous mutations show a notably severe phenotype as we could confirm in our study; this indicates that the double mutations had a dose effect. In addition, it is proposed that genetic testing using NGS technology can be used as a cost-effective screening tool and help guide the treatment of patients with familial cardiomyopathy particularly regarding the risk of family members who are clinically asymptomatic.
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