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Title: Estudio de las variantes genéticas asociadas a la miocardiopatía dilatada familiar
Author: González Llorente, Lucía
Tutor: Fernàndez Isern, Guerau
Others: Canovas Izquierdo, Javier Luis  
Keywords: whole exome sequencing
familial dilated cardiomyopathy
pathogenicit predictors
Issue Date: 8-Jan-2020
Publisher: Universitat Oberta de Catalunya (UOC)
Abstract: Nonsyndromic isolated Dilated Cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. When each of two or more closely related family members meet a formal diagnostic standard for idiopathic dilated cardiomyopathy diagnosis of familial dilated cardiomyopathy (FDCM) is made. Due to the enormous genetic and phenotypic heterogenicity of FDCM, knowledge of the molecular alterations of this disease is limited, so it is necessary to improve the current strategy of diagnosis and treatment. To this end, the use of new technologies, such as new generation sequencing (NGS), including complete exome sequencing (WES), can help in the search for new molecular markers and therapeutic targets. The main objective of this project was to detect the SNVs (Single Nucleotide Variants) that have a greater relationship with the development of the FDCM. To achieve this goal, different bioinformatics tools were used to analyze the data obtained by WES from a 6 members family, two of whom are diagnosed of idiopathic dilated cardiomyopathy. Results demonstrates that KCNJ12 gene play an important role in the alteration of the structure and cardiac conduction, and suggest that the P156L mutation may have a pathogenic role in familial dilated cardiomyopathy. This study emphasizes the application of WES in the identification of causal mutations in this disease.
Language: Spanish
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