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Sequence variants within exon 1 of MECP2 occur in females with mental retardation
Author(s) -
Harvey Chris G.,
Me Sailesh D.,
Stachowiak Beata,
Noor Abdul,
Proctor Adam,
Mensah Albert K.,
Mnatzakanian Gevork N.,
Alfred Simon E.,
Guo Ray,
Scherer Stephen W.,
Kennedy James L.,
Roberts Wendy,
Srivistava Anand K.,
Minassian Berge A.,
Vincent John B.
Publication year - 2006
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30425
Subject(s) - exon , mecp2 , genetics , biology , gene , sequence (biology) , coding region , rett syndrome , autism , psychology , phenotype , developmental psychology
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.