1. Sequence variants within exon 1 ofMECP2 occur in females with mental retardation
- Author
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Chris G, Harvey, Sailesh D, Menon, Beata, Stachowiak, Abdul, Noor, Adam, Proctor, Albert K, Mensah, Gevork N, Mnatzakanian, Simon E, Alfred, Ray, Guo, Stephen W, Scherer, James L, Kennedy, Wendy, Roberts, Anand K, Srivastava, Anand K, Srivistava, Berge A, Minassian, and John B, Vincent
- Subjects
Adult ,Male ,Methyl-CpG-Binding Protein 2 ,DNA Mutational Analysis ,Molecular Sequence Data ,Rett syndrome ,Biology ,Polymorphism, Single Nucleotide ,MECP2 ,Cellular and Molecular Neuroscience ,Exon ,Trinucleotide Repeats ,Intellectual Disability ,medicine ,Humans ,Coding region ,Amino Acid Sequence ,Autistic Disorder ,Gene ,Genetics (clinical) ,Sequence (medicine) ,Genetics ,Sex Characteristics ,Alanine ,Base Sequence ,Alternative splicing ,Exons ,medicine.disease ,Psychiatry and Mental health ,Case-Control Studies ,Female ,Trinucleotide repeat expansion - 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 ∼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. © 2006 Wiley-Liss, Inc.
- Published
- 2007
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