title: A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
abstract: Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.
authors.affiliation: Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark. mette@imbg.ku.dk
authors.forename: Mette
authors.initials: M
authors.lastname: Gilling
authors.forename: Marlene Briciet
authors.initials: MB
authors.lastname: Lauritsen
authors.forename: Morten
authors.initials: M
authors.lastname: Møller
authors.forename: Karen Friis
authors.initials: KF
authors.lastname: Henriksen
authors.forename: Astrid
authors.initials: A
authors.lastname: Vicente
authors.forename: Guiomar
authors.initials: G
authors.lastname: Oliveira
authors.forename: Christina
authors.initials: C
authors.lastname: Cintin
authors.forename: Hans
authors.initials: H
authors.lastname: Eiberg
authors.forename: Paal Skyt
authors.initials: PS
authors.lastname: Andersen
authors.forename: Ole
authors.initials: O
authors.lastname: Mors
authors.forename: Thomas
authors.initials: T
authors.lastname: Rosenberg
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
authors.forename: Rodney M J
authors.initials: RM
authors.lastname: Cotterill
authors.forename: Claes
authors.initials: C
authors.lastname: Lundsteen
authors.forename: Hans-Hilger
authors.initials: HH
authors.lastname: Ropers
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ullmann
authors.forename: Iben
authors.initials: I
authors.lastname: Bache
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
mesh_terms: D000328:Adult; D001321:Autistic Disorder / Q000150:complications / Q000235:genetics*; D002648:Child; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D017403:In Situ Hybridization; D009216:Myopia / Q000150:complications / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion