Abstract | OBJECTIVE: 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:
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Authors | M Auranen, R Vanhala, M Vosman, M Levander, T Varilo, M Hietala, R Riikonen, L Peltonen, I Järvelä |
Journal | Neurology
(Neurology)
Vol. 56
Issue 5
Pg. 611-7
(Mar 13 2001)
ISSN: 0028-3878 [Print] United States |
PMID | 11245712
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Chromosomal Proteins, Non-Histone
- DNA-Binding Proteins
- MECP2 protein, human
- Methyl-CpG-Binding Protein 2
- Repressor Proteins
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Topics |
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosomal Proteins, Non-Histone
- DNA-Binding Proteins
(genetics)
- Dosage Compensation, Genetic
- Humans
- Methyl-CpG-Binding Protein 2
- Mutation
(genetics)
- Phenotype
- Repressor Proteins
- Rett Syndrome
(genetics)
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