Key result
Genetic sequencing of six cardiomyopathy genes in 23 patients with hypertrophic cardiomyopathy identified 43 sequence variants, of which 58.14% were novel and 11 were potentially pathogenic.
Why the study?
What are the candidate sequence variants in selected cardiomyopathy genes in East Slovak patients with hypertrophic cardiomyopathy?
Population
23 unrelated patients with hypertrophic cardiomyopathy and 25 healthy controls from East Slovakia
Comparison
Conventional capillary-based Sanger sequencing… vs Healthy controls
Design
Case-control
Authors
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May inform regional HCM genetic screening; leaves open pathogenicity confirmation and broader applicability.
Case-Control (n=48)
What are the candidate sequence variants in selected cardiomyopathy genes in East Slovak patients with hypertrophic cardiomyopathy?
The study identified novel and known sequence variants, particularly in exon 23 of the MYH7 gene, as potential candidate genetic variants for hypertrophic cardiomyopathy in East Slovak patients.
Zigová et al. (2017) conducted a case-control in Hypertrophic cardiomyopathy (n=48). Sequence variants in six cardiomyopathy genes (MYBPC3, MYH7, NEBL, SCN5A, TNNI3, TNNT2) vs. Healthy controls was evaluated on Presence of candidate sequence variants in selected exons of six cardiomyopathy genes. Genetic sequencing of six cardiomyopathy genes in 23 patients with hypertrophic cardiomyopathy identified 43 sequence variants, of which 58.14% were novel and 11 were potentially pathogenic.
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