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Identification of rare copy number variants in high burden schizophrenia families

Authors

  • Maarten J. Van Den Bossche,

    1. Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
    3. Collaborative Antwerp Psychiatric Research Institute, Universiteitsplein 1, B-2610 Antwerp, Belgium
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  • Mojca Strazisar,

    1. Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
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  • Sophia Cammaerts,

    1. Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
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  • Anthony M. Liekens,

    1. Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
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  • Geert Vandeweyer,

    1. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, B-2650 Edegem, Belgium
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  • Veerle Depreeuw,

    1. Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
    3. Collaborative Antwerp Psychiatric Research Institute, Universiteitsplein 1, B-2610 Antwerp, Belgium
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  • Maria Mattheijssens,

    1. Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
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  • An-Sofie Lenaerts,

    1. Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
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  • Sonia De Zutter,

    1. Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
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  • Peter De Rijk,

    1. Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
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  • Bernard Sabbe,

    1. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. Collaborative Antwerp Psychiatric Research Institute, Universiteitsplein 1, B-2610 Antwerp, Belgium
    3. Psychiatric Hospital Sint-Norbertus, Stationsstraat 22c, B-2570 Duffel, Belgium
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  • Jurgen Del-Favero

    Corresponding author
    1. Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium
    2. University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerp, Belgium
    • Applied Molecular Genomics, VIB Department of Molecular Genetics, University of Antwerp (UA)—Campus Drie Eiken, Universiteitsplein 1, B-2610 Antwerpen, Belgium.
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  • How to Cite this Article: Van Den Bossche MJ, Strazisar M, Cammaerts S, Liekens AM, Vandeweyer G, Depreeuw V, Mattheijssens M, Lenaerts A-S, De Zutter S, De Rijk P, Sabbe B, Del-Favero J. 2013. Identification of Rare Copy Number Variants in High Burden Schizophrenia Families. Am J Med Genet Part B 162B:273–282.

  • All authors report no biomedical financial interests or potential conflicts of interest.

Abstract

Over the last years, genome-wide studies consistently showed an increased burden of rare copy number variants (CNVs) in schizophrenia patients, supporting the “common disease, rare variant” hypothesis in at least a subset of patients. We hypothesize that in families with a high burden of disease, and thus probably a high genetic load influencing disease susceptibility, rare CNVs might be involved in the etiology of schizophrenia. We performed a genome-wide CNV analysis in the index patients of eight families with multiple schizophrenia affected members, and consecutively performed a detailed family analysis for the most relevant CNVs. One index patient showed a DRD5 containing duplication. A second index patient presented with an NRXN1 containing deletion and two adjacent duplications containing MYT1L and SNTG2. Detailed analysis in the subsequent families showed segregation of the identified CNVs. With this study we show the importance of screening high burden families for rare CNVs, which will not only broaden our knowledge concerning the molecular genetic mechanisms involved in schizophrenia but also allow the use of the obtained genetic data to provide better clinical care to these families in general and to non-symptomatic causal CNV carriers in particular. © 2013 Wiley Periodicals, Inc.

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