title: Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome.
abstract: Disturbances in the form of microduplications and microdeletions have been found throughout the genome and have been associated with autism, intellectual disability, and recognizable malformation syndromes. In our study of 187 probands with autism, we have identified a duplication in Xq25 including full gene duplication of OCRL and six flanking genes. Activity of the enzyme gene product in fibroblasts was elevated to over twice the level in control fibroblasts. The boy had no somatic or neurological findings reminiscent of Lowe syndrome.
authors.affiliation: Greenwood Genetic Center, South Carolina 29646, USA.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Schroer
authors.forename: Arthur L
authors.initials: AL
authors.lastname: Beaudet
authors.forename: Marwan
authors.initials: M
authors.lastname: Shinawi
authors.forename: Trilochan
authors.initials: T
authors.lastname: Sahoo
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.forename: Qin
authors.initials: Q
authors.lastname: Sun
authors.forename: Cindy
authors.initials: C
authors.lastname: Skinner
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human