Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies
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. How...
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Published in | Frontiers in genetics Vol. 10; p. 450 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Switzerland
Frontiers Media S.A
15.05.2019
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Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Edited by: Lili Milani, University of Tartu, Estonia This article was submitted to Genomic Medicine, a section of the journal Frontiers in Genetics Reviewed by: Serena Sanna, University Medical Center Groningen, Netherlands; Natasa Djordjevic, University of Kragujevac, Serbia; Richard Hauer, ICIN Netherlands Heart Institute (KNAW), Netherlands These authors have contributed equally to this work |
ISSN: | 1664-8021 1664-8021 |
DOI: | 10.3389/fgene.2019.00450 |