Abstract
Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to
be the most common genetic cause of profound combined intellectual and physical disability
in Caucasian females. This syndrome has been associated with mutations of the MECP2
gene, a transcriptional repressor of unknown target genes. We report a detailed mutational
analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted
us to produce a hot spot map of the mutations identified. Bioinformatic analysis of
the mutations, taking advantage of structural and evolutionary data, leads us to postulate
the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific
regulatory factors.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
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- Corrigendum to “MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region” [Brain Dev 2001; 23: S246–50]Brain and DevelopmentVol. 34Issue 10
- PreviewThis invited article, published subsequent to a presentation at the World Rett meeting in 2000, primarily consists of text and data in the article ‘Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females’ [Journal of Molecular Medicine (2001) 78:648–655, DOI: http://dx.doi.org/10.1007/s001090000155 ], which should be cited as a reference instead of this article. The authors apologize for any confusion and inconvenience caused.
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