alexa Utility of Exome Sequencing in A Familial Trio as A Dia
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

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Research Article

Utility of Exome Sequencing in A Familial Trio as A Diagnostic Tool in Cardiomyopathies

Irene Gómez-Manjón1*, Ana Moreno-Izquierdo1, Marta Moreno-Garcia2, Aitor Delmiro3and Francisco Javier Fernández-Martínez1

1Division of Prenatal Diagnosis, Department of Genetics, Hospital Universitario, Avda. de Córdoba s/n, Madrid, Spain

2Division of Clinical Genetics, Department of Genetics, Hospital Universitario, Avda. de Córdoba s/n, Madrid, Spain

3Department of Biochemistry, Hospital Universitario, Avda. de Córdoba s/n, Madrid 28041, Spain

*Corresponding Author:
Irene Gómez Manjón
Division of Prenatal Diagnosis, Department of Genetics
12 , de Octubre Hospital, Avda. De Córdoba s/n
28041 Madrid, Spain
Tel: +34 91 779 2603
E-mail: [email protected]

Received date: October 15, 2016; Accepted date: October 23, 2016; Published date: October 30, 2016

Citation: Gómez-Manjón I, Moreno-Izquierdo A, Moreno-Garcia M, Delmiro A, Fernández-Martínez FJ (2016) Utility of Exome Sequencing in a Familial Trio as a Diagnostic Tool in Cardiomyopathies. J Genet Syndr Gene Ther 7:312. doi:10.4172/2157-7412.1000312

Copyright: © 2016 Gómez-Manjón I, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



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.


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