Genotype and Phenotype Analysis Using a Hypertrophic Cardiomyopathy-Associated Gene Panel in Turkish Cardiomyopathy Patients
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Date
2022
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Abstract
Objective: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in sarcomeric proteins and characterized by hypertrophy of the heart muscle.
Materials and Methods: In the present study, 21 patients with HCM and some of their parents were evaluated via next-generation sequencing (NGS) using a targeted panel of 17 genes.
Results: Pathogenic or likely pathogenic variants were detected in six patients in the genes MYH7 (p.R663C, p.A423V), MYBPC3 (p.P955fs*95, p.K301fs*31), TNNT2 (p.R154Q), and TNNI3 (p.R204C).
Conclusion: The genotype-phenotype correlations of these variants were discussed by comparing the clinical findings with the literature. p.R204C variant in the TNNI3 gene was found to be caused restrictive cardiomyopathy for the first time in the literature.