Title: DETECTION OF VARIANTS IN GENES RESPONSIBLE FOR CARDIOMYOPATHIES IN THE GENE PANEL

"CLINICAL EXOME"
Introduction: Cardiomyopathies are a heterogeneous group of inherited myocardial diseases, which
represent an important cause of disability and adverse outcome. Most cardiomyopathies show autosomal
dominant inheritance,but also X-linked recessive, autosomal recessive, or matrilineal inheritance but in a
less number of cases. Knowlegde of the genetic basis of all types of cardiomyopathies is progressively
increasing. By analyzing the whole genome or exome information is provided about variants that are not
only associated with genes of interest for a given diagnosis, but also much wider. The American College
of Medical Genetics and Genomics has published recommendations for reporting incidental findings in
the exons of certain genes by making a list of 59 genes. On this list there are genes specific for
cardiomyopathies. The aim of this research was to analyze the frequency, type and clinical significance of
detected variants in genes responsible for cardiomyopathies. Data analysis was obtained from the gene
panel “clinical exome”
Material and Methods: Our research included 14 patients. Using the NGS (Next-Generation Sequencing)
technique variants were detected in genes responsible for cardiomyopathies (MYH 7, MYBPC3,
PRKAG2, TNNI3, TNNT2, TPM1,MYL2, MYL3) by analyzing data from the clinical exome which
consists of 4813 genes. Only genes of interest were taken in account. Indication for genetic analysis was a
variety of unexplained conditions, but without the existence of cardiovascular pathology.
Results: One missense variant was detected in the MYH7 gene (G>G/C). In the MYBPC3 gene there
were 4 variants (C>C/T, C>C/T, C>C/T i T>T/C). The PRKGA2 gene had one missense variant (G>G/C)
In total, 6 missense variants were detected.
Conclusion: In our research, we have shown that the NGS "clinical exome" analysis provides a great
degree of information about genes significant for cardiomyopathies.