835 CARDIOMYOPATHIES: IS IT USEFUL TO ANALYZE MINOR GENES?
نویسندگان
چکیده
Abstract The diffusion of Next Generation Sequencing (NGS)-based approaches has allowed the identification cardiomyopathies and channelopathies pathogenic mutations in more than 200 different genes. Since also genes considered uncommon for a clinical phenotype are now included molecular testing, detection rate disease-causing variants is increased. Here, we report prevalence genetic detected cohort 133 patients, among which 73 showed complex or borderline phenotypes positive family history SCD. analysis was conducted by analyzing an enlarged panel 129 genes, including 60 main associated to (HCM, DCM, ACM, LQTS, BrS) 69 without strong definitive evidence disease association according NIH-funded Clinical Genome Resource (ClinGen), here named “uncommon genes”. We identified 82 variants, 50 (61%) were Among these, thirty-five (70%) reported as unknown significance (VUSs), thirteen (26%) (P) likely (LP) 2 (4%) novel (likely) benign (B/LB) American College Medical Genetics (ACMG) classification. Interestingly, about 85% P/LP patients showing complex/unclear/borderline These data support need extended that not usually explored due currently poor with phenotype, particularly when borderline, order increase diagnostic sensitivity inherited testing.
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ژورنال
عنوان ژورنال: European Heart Journal Supplements
سال: 2022
ISSN: ['1520-765X', '1554-2815']
DOI: https://doi.org/10.1093/eurheartjsupp/suac121.408