Point mutations and genomic rearrangements in the MECP2 gene are the major cause of
Rett syndrome (RTT), a pervasive developmental disorder affecting almost exclusively
females. MECP2 mutations were also identified in patients with autism without RTT. In this
study, we present a mutational and gene dosage analysis of the MECP2 in a cohort of 60
Brazilian males with autistic features but not RTT. No duplication or deletion was identified.
Sequencing analysis, however, revealed four MECP2 sequence variations. Three of them …