ArticleMolecular genetics & genomic medicine2020
Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencing.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- Abnormal Cellular Phenotypes Induced by ThreeCells · 2023Article
- Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease.Journal of clinical medicine · 2022Review
- Genetic resiliency associated with dominant lethalCell reports. Medicine · 2022Article
- Whole-exome sequencing reveals MYH7 p.R671C mutation in three different phenotypes of familial hypertrophic cardiomyopathy.Experimental and therapeutic medicine · 2021Article
- Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencing.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe aim of this study was to identify the genetic causes of patients with hypertrophic cardiomyopathy (HCM) within a family. Most of the previous studies found point mutations as the genetic causes for HCM, whole-gene deletion was rarely reported.
methodsAlthough, clinical genetic testing has been widely used for identifying variants in HCM patients, structural variations are understudied, partly owing to the inadequacy of the available methodology. In the present study, whole-exome sequencing (WES) and Sanger sequencing validation was used to identify the genetic causes in patients with familial HCM.
resultsA genomic deletion in Chromosome 19 containing the whole of troponin I3 gene (TNNI3), and the p.Ile736Thr variant in the myosin heavy chain 7 gene (MYH7) were identified in two patients with familial HCM by WES. The p.Ile736Thr variant is further validated by Sanger sequencing and is predicted as a pathogenic variant by in silico analysis.
conclusionWe added the notion that not only p.Ile736Thr variant of MYH7, but also TNNI3 deletion might potentially contribute to HCM pathogenesis. Our study also suggested WES was a powerful tool to identify the genetic variants causing HCM.
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