Síndrome de Rett: actualización diagnóstica, molecular y terapéutica

Lainet Merencio Santos, Teresa Collazo Mesa

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Resumen

El síndrome de Rett es un trastorno severo del neurodesarrollo que afecta fundamentalmente a niñas. Aproximadamente el 80% de los pacientes muestran características clínicas típicas, como una regresión neurológica temprana y pérdida de habilidades cognitivas, sociales y motoras ya adquiridas. Tiene un patrón de herencia dominante ligado al cromosoma X y es consecuencia, mayoritariamente, de mutaciones en el gen MECP2, aunque se han descrito otros genes implicados en el desarrollo de la enfermedad. Su diagnóstico se realiza sobre la base de criterios clínicos que permiten definir una forma clásica y cuatro formas atípicas, y es confirmado mediante el estudio molecular de los genes relacionados, o por secuenciación de nueva generación. Actualmente solo se ofrece el tratamiento sintomático de la enfermedad, aunque estudios preclínicos y clínicos han conducido a la identificación de potenciales estrategias terapéuticas. En esta revisión se ofrece una actualización diagnóstica, molecular y terapéutica del SR teniendo en cuenta que es considerada la segunda causa genética más común de discapacidad intelectual grave en el sexo femenino.

Palabras clave

Síndrome de Rett; MECP2; características clínicas; diagnóstico molecular

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