Rendimiento del exoma para el diagnóstico temprano de las enfermedades raras genéticas en pacientes pediátricos. Revisión Narrativa
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Introducción: La definición establecida por la Organización Mundial de la Salud de las enfermedades raras es: «aquellas que afectan a menos de 5 a 7 individuos en 10.000 y, aproximadamente del 6 % al 8 % de la población mundial» Temática: la categoría fenotípica más común de los casos pediátricos y de adultos son los trastornos neurológicos en estudios realizados en diferentes países. En enfermedades raras como son los trastornos de las plaquetas e inmunodeficiencias el rendimiento diagnóstico del exoma se aproxima al 25% reportado para enfermedades genéticas de presentación común. Los datos de rendimiento diagnóstico del exoma se encuentran por encima del 50% en enfermedades neurológicas pediátricas tales como enfermedades neuromusculares, trastornos neurometabólicos y paraplejía espástica hereditaria y del 50% en miocardiopatías dilatadas hereditarias. Conclusión: los avances tecnológicos como la secuenciación de nueva generación han facilitado significativamente el diagnóstico y el descubrimiento de genes nuevos en pacientes con enfermedades genéticas raras, especialmente con la introducción de la secuenciación del exoma.
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