title: Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
abstract: Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in 70-85% of RTT cases. We report here five novel frameshift mutations (named 345delC, 895del202, 989ins18del8, 996insAG and 1124del53) in exon 3 and 4 of the MECP2 gene. To avoid the missing of few small deletions in RTT patients using classical mutation screening approaches, we suggest that screening of the mutations in the MECP2 gene in RTT girls should include at least a large PCR to amplify exon 4 entirely.
authors.affiliation: Laboratoire de Biochimie et Génétique Moléculaire and INSERM U129-ICGM, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France. bienvenu@cochin.inserm.fr
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: I
authors.initials: I
authors.lastname: Souville
authors.forename: K
authors.initials: K
authors.lastname: Poirier
authors.forename: C
authors.initials: C
authors.lastname: Aquaviva
authors.forename: L
authors.initials: L
authors.lastname: Burglen
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: B
authors.initials: B
authors.lastname: Héron
authors.forename: A
authors.initials: A
authors.lastname: Kaminska
authors.forename: P
authors.initials: P
authors.lastname: Couvert
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: J
authors.initials: J
authors.lastname: Chelly
mesh_terms: D002868:Chromosomal Proteins, Non-Histone; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins; D004247:DNA