title: A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
abstract: Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause of Rett syndrome (RTT). In order to provide further insights into the distribution and the spectrum of mutations, we investigated, in addition to the whole coding sequence, a phylogenetically conserved sequence within the 3' untranslated region (3' UTR) of the MECP2 gene for 55 sporadic RTT, including 47 typical and 8 nonclassical cases. We have developed an approach based on conformation-sensitive gel electrophoresis, sequence analysis and, for the first time, Southern blot analysis. Mutation detection, including unreported gross DNA rearrangements, was achieved in 79% of classical RTT and 25% of nonclassical RTT patients. The high prevalence of recurrent mutations allows us to propose a molecular diagnosis strategy for RTT.
authors.affiliation: Laboratoire de Génétique Médicale, UPRES 952.
authors.forename: V
authors.initials: V
authors.lastname: Bourdon
authors.forename: C
authors.initials: C
authors.lastname: Philippe
authors.forename: O
authors.initials: O
authors.lastname: Labrune
authors.forename: D
authors.initials: D
authors.lastname: Amsallem
authors.forename: C
authors.initials: C
authors.lastname: Arnould
authors.forename: P
authors.initials: P
authors.lastname: Jonveaux
mesh_terms: D020413:3' Untranslated Regions; D001483:Base Sequence; D002868:Chromosomal Proteins, Non-Histone; D017124:Conserved Sequence; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D020413:3' Untranslated Regions; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins