Mutation analysis of the MECP2 gene in patients with Rett syndrome.

To provide further insights into the distribution and spectrum of mutations at the MECP2 locus, 21 patients from Sicily were analyzed: 14 with classical RTT syndrome and seven with variant forms. Mutations in MECP2 were found in 10 of 14 classical Rett patients (71.4%), and in three of seven cases with a variant form (42.8%). Two novel mutations, not found in 100 control chromosomes, were detected.