title: Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
abstract: A new splice variant of the Rett syndrome gene, MECP2, was recently identified, that includes coding sequence from exon 1, and is the predominant transcript in the central nervous system. This sequence encodes polyalanine and polyglycine stretches within the N-terminal portion of MeCP2, and may confer novel functional properties to the protein. We screened autism, mental retardation (MR), and control populations for sequence variation within this region, and identified variation in approximately 1% of MR cases screened (N = 1,410). No variants were identified in the autism sample (N = 401). Most of these variants occur within a trinucleotide repeat region and result in change in number of alanine or glycine residues within the repeat stretches. We suggest some of these variants may be a relatively frequent cause of non-specific MR or developmental delay.
authors.affiliation: Molecular Neuropsychiatry & Development Lab, Neurogenetics Section, CAMH, University of Toronto, Ontario, Canada.
authors.forename: Chris G
authors.initials: CG
authors.lastname: Harvey
authors.forename: Sailesh D
authors.initials: SD
authors.lastname: Menon
authors.forename: Beata
authors.initials: B
authors.lastname: Stachowiak
authors.forename: Abdul
authors.initials: A
authors.lastname: Noor
authors.forename: Adam
authors.initials: A
authors.lastname: Proctor
authors.forename: Albert K
authors.initials: AK
authors.lastname: Mensah
authors.forename: Gevork N
authors.initials: GN
authors.lastname: Mnatzakanian
authors.forename: Simon E
authors.initials: SE
authors.lastname: Alfred
authors.forename: Ray
authors.initials: R
authors.lastname: Guo
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: James L
authors.initials: JL
authors.lastname: Kennedy
authors.forename: Wendy
authors.initials: W
authors.lastname: Roberts
authors.forename: Anand K
authors.initials: AK
authors.lastname: Srivastava
authors.forename: Anand K
authors.initials: AK
authors.lastname: Srivistava
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
authors.forename: John B
authors.initials: JB
authors.lastname: Vincent
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D000595:Amino Acid Sequence; D001321:Autistic Disorder / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D012727:Sex Characteristics; D018911:Trinucleotide Repeats
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D000409:Alanine