Estudio molecular del síndrome de plaqueta pegajosa mediante análisis del exoma
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Autores
Barros García, Gisela
Director
Caminos Pinzón, Jorge Eduardo (Thesis advisor)
Tipo de contenido
Trabajo de grado - Pregrado
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EspañolFecha de publicación
2016
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El síndrome de plaqueta pegajosa (SPP) es una condición pro-coagulante caracterizado por trombosis arterial o venosa debido a hiperagregabilidad plaquetaria. No se conoce la causa molecular que logre explicar con claridad el fenómeno de hiperagregabilidad plaquetaria en estos pacientes. La secuenciación del exoma (WES) está demostrando ser un método eficaz para la identificación de variantes de novo en trastornos de herencia mendeliana. Métodos: Se realizo WES en una paciente con criterios de SPP. El procesamiento de las secuencias y las anotaciones de las variantes encontradas fueron realizadas utilizando herramientas bioinformáticas estándar. Se utilizó un sistema de filtración para dar prioridad a las variantes de novo de posible importancia funcional y estas fueron comparadas con genes posiblemente relacionados con SPP e hiperagregabilidad plaquetaria. Resultados: En una paciente con SPP tipo I, se encontró una mutación delecional de novo, en el gen Ori1 que codifica una subunidad de canal de calcio en la membrana plaquetaria. Conclusión: Estos hallazgos amplían el espectro de condiciones genéticas relacionadas con el SPP y proporcionan más apoyo para el entendimiento de su patogénesis, diagnóstico y tratamiento.
Abstract. Sticky platelet syndrome (SPS) is a pro-coagulant condition characterized by artherial or venous thrombosis due to a platelet hyperaggregability.There is no known molecular cause that allows to explain with clarity the platelet hyperaggregability phenomenon in these patients. The whole exome sequencing (WES) has been an effective method to identify novo variants in Mendelian hereditary disorders. Methods: WES was done in a patient with SPP criteria. The processing of the sequences and the annotated variants found, were done utilizing bioinformatics standard tools. A filtration system was used to give priority to the novo variants that could have possible functional relevance. These ones were compared with genes possibly related with SPP and platelet hyperaggregability. Results: In a patient with SPP type I, it was found a deletional novo mutation in the gene Ori1 that encodes a calcium channel subunit in the platelet membrane. Conclusion: These findings expand the spectrum of gene conditions related to the SPP and provide more support to understand its pathogenesis, diagnose and treatment.
Abstract. Sticky platelet syndrome (SPS) is a pro-coagulant condition characterized by artherial or venous thrombosis due to a platelet hyperaggregability.There is no known molecular cause that allows to explain with clarity the platelet hyperaggregability phenomenon in these patients. The whole exome sequencing (WES) has been an effective method to identify novo variants in Mendelian hereditary disorders. Methods: WES was done in a patient with SPP criteria. The processing of the sequences and the annotated variants found, were done utilizing bioinformatics standard tools. A filtration system was used to give priority to the novo variants that could have possible functional relevance. These ones were compared with genes possibly related with SPP and platelet hyperaggregability. Results: In a patient with SPP type I, it was found a deletional novo mutation in the gene Ori1 that encodes a calcium channel subunit in the platelet membrane. Conclusion: These findings expand the spectrum of gene conditions related to the SPP and provide more support to understand its pathogenesis, diagnose and treatment.