Mutations in the MECP2 gene in a cohort of girls with Rett syndrome

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome EDITOR-Rett syndrome (RTT, MIM 312760) is a neurodevelopmental disorder characterised by normal early psychomotor development followed by a period of regression, the loss of acquired purposeful manual and speech skills, hand wringing, gait disturbance, and growth retardation. 1 As RTT occurs exclusively in females and almost all patients with RTT are sporadic, it has been proposed that RTT is caused by an X linked dominant mutation with lethality in hemizygous males. 1 Recently, DNA mutations in the methyl-CpG binding protein 2 gene (MECP2), mapped to Xq28, have been detected in some patients with RTT. 2 3 We carried out a mutation analysis in 40 Japanese patients with RTT to confirm that MECP2 is the gene responsible for RTT and to detect common mutations in MECP2.