Description

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system. RTT primarily affects females, making it one of the most common genetic causes of severe intellectual disability in females. Prevalence is estimated at 1/9,000 in girls under the age of 12, whereas prevalence in the general population is estimated at approximately 1/30,000. Classical RTT is characterised by apparently normal development for the first 6-18 months of life followed by the loss of acquired fine and gross motor skills and the ability to engage in social interaction, and the development of stereotypic hand movements. In the current state of knowledge, Rett syndrome, in its various clinical forms, is due to mutations in one of the following three genes: MECP2 (MethylCpGBinding protein) responsible for the disease in about 95% of patients with classic phenotype; CDKL5 (Cyclin Dependent Like 5 Kinase) mainly involved in the pathogenesis of forms with early onset epilepsy in the first months of life; FOXG1 (Forkhead box G1) associated with the forms of congenital encephalopathy.

External Information

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