title: Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.
abstract: We report here the identification and characterization of a novel gene (AUTS2) that spans the 7q11.2 breakpoint in a monozygotic twin pair concordant for autism and a t(7;20) (q11.2; p11.2) translocation. AUTS2 is 1.2 Mb and has 19 exons. The predicted protein is 1295 amino acids and does not correspond to any known protein. DNA sequence analysis of autism subjects and controls revealed 22 biallelic polymorphic sites. For all sites, both alleles were observed in both cases and controls. Thus no autism-specific mutation was observed. Association analysis with two exonic polymorphic sites and linkage analysis of four dinucleotide repeat markers, two within and two flanking AUTS2, was negative. Thus, although it is unlikely that AUTS2 is an autism susceptibility gene for idiopathic autism, it may be the gene responsible for the disorder in the twins studied here.
authors.affiliation: Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA.
authors.forename: Razia
authors.initials: R
authors.lastname: Sultana
authors.forename: Chang-En
authors.initials: CE
authors.lastname: Yu
authors.forename: Jun
authors.initials: J
authors.lastname: Yu
authors.forename: Jeffery
authors.initials: J
authors.lastname: Munson
authors.forename: Donghui
authors.initials: D
authors.lastname: Chen
authors.forename: Wenhui
authors.initials: W
authors.lastname: Hua
authors.forename: Annette
authors.initials: A
authors.lastname: Estes
authors.forename: Fanny
authors.initials: F
authors.lastname: Cortes
authors.forename: Flora
authors.initials: F
authors.lastname: de la Barra
authors.forename: Dongmei
authors.initials: D
authors.lastname: Yu
authors.forename: Syed T
authors.initials: ST
authors.lastname: Haider
authors.forename: Barbara J
authors.initials: BJ
authors.lastname: Trask
authors.forename: Eric D
authors.initials: ED
authors.lastname: Green
authors.forename: Wendy H
authors.initials: WH
authors.lastname: Raskind
authors.forename: Christine M
authors.initials: CM
authors.lastname: Disteche
authors.forename: Ellen
authors.initials: E
authors.lastname: Wijsman
authors.forename: Geraldine
authors.initials: G
authors.lastname: Dawson
authors.forename: Daniel R
authors.initials: DR
authors.lastname: Storm
authors.forename: Gerard D
authors.initials: GD
authors.lastname: Schellenberg
authors.forename: Enrique C
authors.initials: EC
authors.lastname: Villacres
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001321:Autistic Disorder / Q000209:etiology / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D008969:Molecular Sequence Data; D014178:Translocation, Genetic; D014430:Twins, Monozygotic / Q000235:genetics*