Abstract
Genomic DNAs from 35 Japanese sporadic patients with Rett syndrome (RTT) were screened
for DNA mutations in the entire coding region and exon–intron boundaries of methyl-CpG-binding
protein 2 (MECP2). We detected mutations in 30 (85.7%) of 35 patients. Among these 35 RTT patients,
five patients (14%) had the preserved speech variant of this disease. Four respective
mutations (R133C, R306C, R294X, 2 base pair (bp) deletion) were found in these five
patients. Two patients had the same missense mutation, R133C. The patients with the
R133C mutation and one with frameshift mutation presented the relatively mild clinical
presentation, and the R133C mutation was not found in any other patient without preserved
speech. We confirmed that the preserved speech variant is one of the clinical phenotypes
of RTT and is also caused by MECP2 mutation. We speculated that the clinical phenotype of patients with the R133C missense
mutation might be mild.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
