title: Identification of MeCP2 mutations in a series of females with autistic disorder.
abstract: Rett disorder and autistic disorder are both pervasive developmental disorders. Recent studies indicate that at least 80% of Rett Disorder cases are caused by mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. Since there is some phenotypic overlap between autistic disorder and Rett disorder, we analyzed 69 females clinically diagnosed with autistic disorder for the presence of mutations in the MeCP2 gene. Two autistic disorder females were found to have de novo mutations in the MeCP2 gene. These data provide additional evidence of variable expression in the Rett disorder phenotype and suggest MeCP2 testing may be warranted for females presenting with autistic disorder.
authors.affiliation: Department of Medicine and the Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: Regina M
authors.initials: RM
authors.lastname: Carney
authors.forename: Chantelle M
authors.initials: CM
authors.lastname: Wolpert
authors.forename: Sarah A
authors.initials: SA
authors.lastname: Ravan
authors.forename: Mona
authors.initials: M
authors.lastname: Shahbazian
authors.forename: Allison
authors.initials: A
authors.lastname: Ashley-Koch
authors.forename: Michael L
authors.initials: ML
authors.lastname: Cuccaro
authors.forename: Jeffery M
authors.initials: JM
authors.lastname: Vance
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D008969:Molecular Sequence Data; D009154:Mutation; D012097:Repressor Proteins
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins