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2017, Number 1

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Rev Cub Gen 2017; 11 (1)

Rett syndrome: diagnostic, molecular and therapeutic update

Merencio SL, Collazo MT

Language: Spanish
References: 49
Page: 7-13
PDF size: 268.09 Kb.


ABSTRACT

Rett syndrome is a severe neurodevelopmental disorder that primarily affects girls. Approximately 80% of patients show typical clinical features as early neurological regression and loss of cognitive, social and motor skills already acquired. Has a dominant X-linked inheritance pattern and is therefore mostly, mutations in the MECP2 gene, although others genes implicated in disease development have been described. Its diagnosis is made based on clinical criteria for defining a classic form and four atypical forms, and it is confirmed by molecular study of related genes or using novel techniques of next generation sequencing. Currently, only symptomatic treatment of disease is provided, although preclinical and clinical studies have led to the identification of potential therapeutic strategies. In this review, a diagnostic, therapeutic and molecular update about SR is offered; due to it is the second most common genetic cause of severe intellectual disability in females.


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