ArticleJournal of cellular physiology2011
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
Article in Journal of cellular physiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.Clinical research in cardiology : official journal of the German Cardiac Society · 2018Pooled it
- MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.European journal of human genetics : EJHG · 2025Article
- Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2022Article
- Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.Journal of clinical laboratory analysis · 2018Article
- MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Orphanet journal of rare diseases · 2016Article
- Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.Clinical and translational science · 2013Article
- Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.Journal of cardiovascular translational research · 2013Article
- A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.Molecular and cellular biochemistry · 2012Article
- Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein.Croatian medical journal · 2011Article
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 1 country.
Funding
Abstract
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. Fourteen sarcomeric and sarcomere-related genes have been implicated in HCM etiology, those encoding β-myosin heavy chain (MYH7) and cardiac myosin binding protein C (MYBPC3) reported as the most frequently mutated: in fact, these account for around 50% of all cases related to sarcomeric gene mutations, which are collectively responsible for approximately 70% of all HCM cases. Here, we used denaturing high-performance liquid chromatography followed by bidirectional sequencing to screen the coding regions of MYH7 and MYBPC3 in a cohort (n = 125) of Italian patients presenting with HCM. We found 6 MHY7 mutations in 9/125 patients and 18 MYBPC3 mutations in 19/125 patients. Of the three novel MYH7 mutations found, two were missense, and one was a silent mutation; of the eight novel MYBPC3 mutations, one was a substitution, three were stop codons, and four were missense mutations. Thus, our cohort of Italian HCM patients did not harbor the high frequency of mutations usually found in MYH7 and MYBPC3. This finding, coupled to the clinical diversity of our cohort, emphasizes the complexity of HCM and the need for more inclusive investigative approaches in order to fully understand the pathogenesis of this disease.
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