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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 408344.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Authors:Gilling, Mette; Lauritsen, Marlene Briciet; Møller, Morten; Henriksen, Karen Friis; Vicente, Astrid; Oliveira, Guiomar; Cintin, Christina; Eiberg, Hans; Andersen, Paal Skyt; Mors, Ole; Rosenberg, Thomas; Brøndum-Nielsen, Karen; Cotterill, Rodney M J; Lundsteen, Claes; Ropers, Hans-Hilger; Ullmann, Reinhard; Bache, Iben; Tümer, Zeynep; Tommerup, Niels
Language:English
Date of Publication (YYYY-MM-DD):2008-01-09
Title of Journal:European Journal of Human Genetics
Journal Abbrev.:Eur J Hum Genet
Volume:16
Issue / Number:3
Start Page:312
End Page:319
Copyright:© 2009 European Society of Human Genetics
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:translocation, deletion, autism, myopia, array CGH,
chromosome 18
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark;
2.Centre for Psychiatric Research, Aarhus University Hospital, Riskov, Denmark;
3.NANEA, Department of Epidemiology, Institute of Public Health, University of Aarhus, Aarhus, Denmark;
4.Department of Medical Anatomy, University of Copenhagen, Copenhagen N, Denmark;
5.Instituto Gulbenkian de Ciência, Oeiras, Portugal;
6.Instituto Nacional de Saúde Dr Ricardo Jorge, Lisbon, Portugal;
7.Hospital Pediátrico de Coimbra, Coimbra, Portugal;
8.Psychiatric Hospital, Hillerød, Denmark;
9.Department of Medical Genetics, Institute of Molecular and Cellular Medicine, University of Copenhagen, Copenhagen N, Denmark;
10.Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen S, Denmark;
11.Kennedy Institute – National Eye Clinic, Glostrup, Denmark;
12.Biophysics Group, Department of physics, Danish Technical University, Lyngby, Denmark;
13.Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
Identifiers:URL:translocation, deletion, autism, myopia, array CGH...
DOI:10.1038/sj.ejhg.5201985
ISSN:1018-4813
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