A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
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.
Gilling
Mette
M
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
Lauritsen
Marlene Briciet
MB
Møller
Morten
M
Henriksen
Karen Friis
KF
Vicente
Astrid
A
Oliveira
Guiomar
G
Cintin
Christina
C
Eiberg
Hans
H
Andersen
Paal Skyt
PS
Mors
Ole
O
Rosenberg
Thomas
T
Brøndum-Nielsen
Karen
K
Cotterill
Rodney M J
RM
Lundsteen
Claes
C
Ropers
Hans-Hilger
HH
Ullmann
Reinhard
R
Bache
Iben
I
Tümer
Zeynep
Z
Tommerup
Niels
N
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