Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies
dc.contributor.author
dc.date.accessioned
2020-06-15T09:29:01Z
dc.date.available
2020-06-15T09:29:01Z
dc.date.issued
2019-05-15
dc.identifier.issn
1664-8021
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dc.description.abstract
Cardiomyopathies are a heterogeneous group of inherited cardiac diseases characterized by progressive myocardium abnormalities associated with mechanical and/or electrical dysfunction. Massive genetic sequencing technologies allow a comprehensive genetic analysis to unravel the cause of disease. However, most identified genetic variants remain of unknown clinical significance due to incomplete penetrance and variable expressivity. Therefore, genetic interpretation of variants and translation into clinical practice remain a current challenge. We performed retrospective comprehensive clinical assessment and genetic analysis in six families, four diagnosed with arrhythmogenic cardiomyopathy, and two diagnosed with hypertrophic cardiomyopathy (HCM). Genetic testing identified three rare variants (two non-sense and one small indel inducing a frameshift), each present in two families. Although each variant is currently classified as pathogenic and the cause of the diagnosed cardiomyopathy, the onset and/or clinical course differed in each patient. New genetic technology allows comprehensive yet cost-effective genetic analysis, although genetic interpretation, and clinical translation of identified variants should be carefully done in each family in a personalized manner
dc.description.sponsorship
This work was supported by Obra Social “La Caixa Foundation” (ID 100010434), Fondo Investigacion Sanitaria (FIS, PI14/01773 and PI17/01690) from Instituto Salud Carlos III (ISCIII), and “Fundacio Privada Daniel Bravo Andreu.” CIBERCV is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness
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application/pdf
dc.language.iso
eng
dc.publisher
Frontiers Media
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Reproducció digital del document publicat a: https://doi.org/10.3389/fgene.2019.00450
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Frontiers in Genetics, 2019, vol. 10, art.núm. 450
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Articles publicats (D-CM)
dc.rights
Attribution 4.0 International
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dc.subject
dc.title
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies
dc.type
info:eu-repo/semantics/article
dc.rights.accessRights
info:eu-repo/semantics/openAccess
dc.type.version
info:eu-repo/semantics/publishedVersion
dc.identifier.doi
dc.identifier.idgrec
030097
dc.type.peerreviewed
peer-reviewed