title: Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.
abstract: The hypothesis is set forth that dysregulation of brain-expressed genes on the X chromosome constitutes the major predisposition to autism spectrum disorders (ASDs). This dysregulation, mediated by hypomethylation or hypermethylation of CpG sites within gene promoters, leads to overexpression or partial silencing of one or more brain-expressed genes, which in turn results in an unbalanced production of the proteins responsible for brain structure and function. This hypothesis accommodates the predominantly sporadic occurrence (95%), the male excess (4:1), and the usual absence of malformations or other syndromic manifestations in ASDs.
authors.affiliation: Greenwood Genetic Center, Greenwood, South Carolina, USA.
authors.forename: Julie R
authors.initials: JR
authors.lastname: Jones
authors.forename: Cindy
authors.initials: C
authors.lastname: Skinner
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Friez
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
mesh_terms: D001321:Autistic Disorder / Q000235:genetics* / Q000378:metabolism; D001921:Brain / Q000378:metabolism; D041321:Chromosomes, Human, X / Q000378:metabolism*; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male