Rett syndrome and the MECP2 gene

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Abstract
The uncertainty of diagnosis associated with the occasional presence of apparently affected males has always been complicated by the wide clinical spectrum presented by females, which ranges from the severely affected “classical” cases through a wide range of disability to a milder forme fruste. This variable severity has been partly ascribed to the degree to which skewing of X inactivation favours expression of the normal X chromosome. This, however, may not explain the specific variants such as the more mildly affected girls with retained speech or the more severe congenitally affected cases with early seizures.