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Rett syndrome

From SNPedia

Occurring almost exclusively in girls, Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, usually caused by de novo mutations in the MECP2 gene. Rett syndrome is inherited in an X-linked dominant manner, almost always arising from the paternally derived X chromosome.GHR

Although over 300 Rett syndrome mutations are listed in RettBASE, more than 70% of the disease causing MECP2 mutations are a relatively small number of primarily C to T transitions. These point mutations are: