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Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

Authors

  • Anna Bremer,

    Corresponding author
    1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    2. Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    • Department of Molecular Medicine and Surgery, Karolinska Institutet, Center for Molecular Medicine, L8:02, Karolinska University Hospital, Solna, 171 76 Stockholm, Sweden.
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  • MaiBritt Giacobini,

    1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    2. Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    3. PRIMA Child and Adolescent Psychiatry AB, Stockholm, Sweden
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  • Mats Eriksson,

    1. Department of Neuropediatrics, Astrid Lindgren Children's Hospital, Stockholm, Sweden
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  • Peter Gustavsson,

    1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    2. Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    3. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
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  • Viviann Nordin,

    1. Department of Neuropediatrics, Sachs' Children's Hospital, Södersjukhuset, Stockholm, Sweden
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  • Elisabeth Fernell,

    1. Department of Neuropediatrics, Astrid Lindgren Children's Hospital, Stockholm, Sweden
    2. Autism Centre for Young Children, Karolinska University Hospital, Stockholm, Sweden
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  • Christopher Gillberg,

    1. Institute of Neuroscience and Physiology, Child and Adolescent Psychiatry, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
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  • Ann Nordgren,

    1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    2. Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    3. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
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  • Åsa Uppströmer,

    1. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
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  • Britt-Marie Anderlid,

    1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    2. Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    3. Department of Neuropediatrics, Astrid Lindgren Children's Hospital, Stockholm, Sweden
    4. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
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  • Magnus Nordenskjöld,

    1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    2. Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    3. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
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  • Jacqueline Schoumans

    1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    2. Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    3. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
    4. Department of Medical Genetics, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland
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  • How to Cite this Article: Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A, Uppströmer Å, Anderlid B-M, Nordenskjöld M, Schoumans J. 2011. Copy Number Variation Characteristics in Subpopulations of Patients With Autism Spectrum Disorders. Am J Med Genet Part B 156:115–124.

Abstract

Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with a complex genetic etiology. We used high-resolution whole genome array-based comparative genomic hybridization (array-CGH) to screen 223 ASD patients for gene dose alterations associated with susceptibility for autism. Clinically significant copy number variations (CNVs) were identified in 18 individuals (8%), of which 9 cases (4%) had de novo aberrations. In addition, 20 individuals (9%) were shown to have CNVs of unclear clinical relevance. Among these, 13 cases carried rare but inherited CNVs that may increase the risk for developing ASDs, while parental samples were unavailable in the remaining seven cases. Classification of all patients into different phenotypic and inheritance pattern groups indicated the presence of different CNV patterns in different patient groups. Clinically relevant CNVs were more common in syndromic cases compared to non-syndromic cases. Rare inherited CNVs were present in a higher proportion of ASD cases having first- or second-degree relatives with an ASD-related neuropsychiatric phenotype in comparison with cases without reported heredity (P = 0.0096). We conclude that rare CNVs, encompassing potential candidate regions for ASDs, increase the susceptibility for the development of ASDs and related neuropsychiatric disorders giving us further insight into the complex genetics underlying ASDs. © 2010 Wiley-Liss, Inc.

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