Abstract
Rett syndrome (RTT) is an X-linked neurodevelopmental disease that affects girls almost
exclusively. In a high proportion of patients the disease is caused by de novo mutations
at the MECP2 gene, encoding methyl-CpG-binding protein 2. With the aim to characterize
the spectrum of mutations in a series of sporadic RTT patients, including an affected
male, and to relate the genetic results to the clinical features of the disease, a
clinical checklist and a score system were elaborated to evaluate the clinical severity
of the disease. Mutation analysis of the MECP2 coding region was done by direct sequencing.
De novo mutations were found in 60% of the patients, including both classic and atypical
forms. The change R133H was identified in a 13-year-old boy showing a classic RTT
phenotype and normal karyotype. Significant differences were observed among missense
and truncating mutations regarding disease severity, age of onset of stereotypies,
and the ability of the patients to sit alone and to walk.
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Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
