TY - JOUR
T1 - A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
AU - Gilling, Mette
AU - Lauritsen, Marlene Briciet
AU - Møller, Morten
AU - Henriksen, Karen Friis
AU - Vicente, Astrid
AU - Oliveira, Guiomar
AU - Cintin, Christina
AU - Eiberg, Hans
AU - Andersen, Paal Skyt
AU - Mors, Ole
AU - Rosenberg, Thomas
AU - Brøndum-Nielsen, Karen
AU - Cotterill, Rodney M J
AU - Lundsteen, Claes
AU - Ropers, Hans-Hilger
AU - Ullmann, Reinhard
AU - Bache, Iben
AU - Tümer, Zeynep
AU - Tommerup, Niels
N1 - Keywords: Adult; Autistic Disorder; Child; Chromosomes, Human, Pair 18; Female; Humans; In Situ Hybridization; Myopia; Reverse Transcriptase Polymerase Chain Reaction; Sequence Deletion
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
U2 - 10.1038/sj.ejhg.5201985
DO - 10.1038/sj.ejhg.5201985
M3 - Journal article
C2 - 18183041
VL - 16
SP - 312
EP - 319
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 3
ER -