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MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
M Auranen1, R Vanhala, M Vosman
1Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland. Mari.Auranen@ktl.fi
Neurology
|March 14, 2001
Summary
Mutational screening of the methyl-CpG-binding protein 2 gene (MECP2) confirms its high prevalence in classic Rett syndrome. Further analysis is needed for atypical cases and those with intellectual disability.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Rett syndrome is a rare neurodevelopmental disorder.
- The methyl-CpG-binding protein 2 (MECP2) gene is implicated in Rett syndrome.
- Diagnostic criteria require refinement, especially for atypical presentations.
Purpose of the Study:
- To investigate MECP2 gene mutations in patients with classic Rett syndrome and Rett-like features.
- To correlate MECP2 mutations with clinical phenotypes and X-chromosome inactivation (XCI) patterns.
- To evaluate the utility of MECP2 mutational screening in diagnosing Rett syndrome.
Main Methods:
- Sequence analysis of the MECP2 gene coding region was performed.
- Thirty-nine patients with classic Rett syndrome, one with preserved speech variant (PSV), and 12 with developmental delay and Rett-like features were studied.
- Phenotype was correlated with mutation type and XCI patterns.
Main Results:
- MECP2 mutations were found in 100% of Finnish patients with classic Rett syndrome.
- A novel mutation, P127L, was identified in a patient with PSV.
- Random XCI was observed in 72% of classic Rett syndrome patients.
Conclusions:
- MECP2 mutations are highly prevalent in classic Rett syndrome.
- Further research is needed to determine mutation prevalence in atypical Rett syndrome and patients with mental retardation.
- MECP2 mutational screening is a valuable diagnostic tool for Rett syndrome.