Genotype and Phenotype Analysis Using a Hypertrophic Cardiomyopathy-Associated Gene Panel in Turkish Cardiomyopathy Patients
نویسندگان
چکیده
Objective: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in sarcomeric proteins and characterized hypertrophy of the heart muscle. 
 Materials Methods: In present study, 21 patients with HCM some their parents were evaluated via next-generation sequencing (NGS) using a targeted panel 17 genes. Results: Pathogenic or likely pathogenic variants detected six genes MYH7 (p.R663C, p.A423V), MYBPC3 (p.P955fs*95, p.K301fs*31), TNNT2 (p.R154Q), TNNI3 (p.R204C).
 Conclusion: The genotype-phenotype correlations these discussed comparing clinical findings literature. p.R204C variant gene was found to be restrictive for first time
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ژورنال
عنوان ژورنال: Celal bayar Üniversitesi sa?l?k bilimleri enstitüsü dergisi
سال: 2022
ISSN: ['2147-9607']
DOI: https://doi.org/10.34087/cbusbed.1052808