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From the Department of Human Molecular Genetics (Drs. Auranen, Varilo, and Järvelä, and M. Vosman and M. Levander), National Public Health Institute, Helsinki; Unit of Child Neurology (Dr. Vanhala), Hospital for Children and Adolescents, University of Helsinki; Department of Clinical Genetics (Dr. Hietala), University of Turku; Department of Child Neurology (Dr. Riikonen), University of Kuopio, Finland; and the Department of Human Genetics (Dr. Peltonen), UCLA School of Medicine, Los Angeles, CA.
Address correspondence and reprint requests to Dr. M. Auranen, National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, FIN-300, Helsinki, Finland; e-mail: Mari.Auranen{at}ktl.fi
OBJECTIVE: To discuss the diagnostic criteria for Rett syndrome based on mutational screening of the methyl-CpG-binding protein 2 gene ( MECP2 ) in patients with classic Rett syndrome and patients with Rett-like features.
METHODS: Thirty-nine patients with classical Rett syndrome, one with preserved speech variant (PSV), and 12 patients with developmental delay and some features of Rett syndrome were recruited for sequence analysis of the MECP2 gene coding region. The phenotype of the patients was correlated with the presence and type of the mutation as well as the X-chromosome inactivation (XCI) pattern.
RESULTS: found in 100% of the patients with classical Rett syndrome originating from Finland. One novel mutation, P127L, was detected in a patient with PSV. No mutations were found in other cases. The XCI status was found to be random in 72% of the patients with classical Rett syndrome, including the patient with PSV and all patients with developmental delay informative for the analysis. Conclusions: An MECP2 mutation can be found in almost every patient with classical Rett syndrome. More patients need to be analyzed in order to clarify the mutation prevalence in patients with atypical Rett syndrome and in patients with mental retardation.
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