Avances genómicos de la última década y su influencia en el enfoque diagnóstico de la discapacidad intelectual.

Autores/as

  • Hugo Hernán Abarca Barriga Servicio de Genética & EIM, Instituto Nacional de Salud del Niño-Breña. Lima, Perú. /CP Medicina Humana, Universidad Científica del Sur. Lima, Perú. /Facultad de Medicina Humana, Universidad Ricardo Palma. Lima, Perú.

DOI:

https://doi.org/10.20453/rnp.v84i1.3936

Palabras clave:

inteligencia, discapacidad intelectual, secuenciación de exoma, análisis de micromatrices, variantes genéticas, variantes en el número de copias

Resumen

La inteligencia humana es un rasgo poligénico (~1000 genes) con una influencia de cada gen aproximadamente ascendente al 0,1%. Es un atributo indispensable para el desarrollo personal, familiar, social y económico y tiene, además, una relación directamente proporcional al mantenimiento de la salud y a una mayor esperanza de vida. La discapacidad intelectual, consecuentemente, afecta todas estas áreas y constituye un problema de salud pública en varios países de Latinoamérica en los que exhibe una prevalencia mayor al 10%. La etiología de la discapacidad intelectual sea aislada o sindrómica, es genética hasta en un 85% de los casos; se diagnostica mediante las nuevas tecnologías de búsqueda en el genoma, tales como la secuenciación masiva y el análisis cromosómico por micromatrices. El diagnóstico etiológico de la discapacidad intelectual permite la selección de terapias específicas, la determinación del pronóstico y de riesgos de recurrencia familiar e individual.

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2021-04-08

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Abarca Barriga HH. Avances genómicos de la última década y su influencia en el enfoque diagnóstico de la discapacidad intelectual. Rev Neuropsiquiatr [Internet]. 8 de abril de 2021 [citado 29 de marzo de 2024];84(1):33-50. Disponible en: https://revistas.upch.edu.pe/index.php/RNP/article/view/3936

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