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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 thatMECP2 is the gene responsible for RTT and to detect common mutations in MECP2.
All patients screened in this study were sporadic cases, 38 patients with clinically typical phenotypes of RTT and two patients with preserved speech variant of RTT.4 Genomic DNA was extracted from the peripheral blood of 40 patients with RTT, their parents, and 105 healthy Japanese women. Primer pairs for polymerase chain reaction (PCR) amplification, designed using the genomic sequence of MECP2 (Gen Bank accession number, MeCP2 locus, AF030876, AJ132917), and the sizes of the products are shown in table 1. PCR amplification was performed in a final volume of 25 μl with PCR buffer, dNTPs, Taq polymerase, and each primer set. PCR conditions were: initial denaturing at 94°C for three minutes followed by 35 cycles of denaturing at 94°C, annealing at 56°C, and extension at 72°C …