Журнал генетических синдромов и генной терапии
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Utility of Exome Sequencing in A Familial Trio as A Diagnostic Tool in Cardiomyopathies

Irene Gómez-Manjón, Ana Moreno-Izquierdo, Marta Moreno-Garcia, Aitor Delmiro and Francisco Javier Fernández-Martínez

Introduction Hereditary heart diseases are a set of major prevalence diseases that are associated with risk of sudden death. These diseases affect with high frequency young individuals and whose genetic basis has been known in recent years. More than 100 genes are involved in these diseases. The emergence of next-generation sequencing is enabling a greater understanding of the genes involved, despite this, in a significant number of patients it is not detected the associated genetic defect. Methods In this study it was analyzed the utility of exome sequencing in a familial trio as a diagnostic tool. It was realized a retrospective study of a hypertrophic miocardiopathy case with identified genetic cause. The data generated in the sequencing study was analyzed by three bioinformatics tools: ANNOVAR (Wang K et al), Ion ReporterTM Software (Thermo Fisher. USA) and QIAGEN’s Ingenuity® Variant Analysis™ software (QIAGEN. Redwood City). Results Due to exome study, in the index case, two possibly pathogenic variants were detected: c1292G>A, in KCND3 gene and c.67087C>T, in TTN gene. Additionally, 5 probably not pathogenic variants were identified. Conclusion Exome’s next-generation sequencing is a more useful tool than Sanger or panel sequencing, due to the flexibility of it. It allows analyze interest region associated with pathology and also discover new variants and their association with diseases.