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Clinically relevant copy number variations detected in cerebral palsy

Author

Listed:
  • Maryam Oskoui

    (McGill University)

  • Matthew J. Gazzellone

    (The Centre for Applied Genomics, The Hospital for Sick Children
    Program in Genetics and Genome Biology, The Hospital for Sick Children)

  • Bhooma Thiruvahindrapuram

    (The Centre for Applied Genomics, The Hospital for Sick Children
    Program in Genetics and Genome Biology, The Hospital for Sick Children)

  • Mehdi Zarrei

    (The Centre for Applied Genomics, The Hospital for Sick Children
    Program in Genetics and Genome Biology, The Hospital for Sick Children)

  • John Andersen

    (University of Alberta
    Glenrose Rehabilitation Hospital)

  • John Wei

    (The Centre for Applied Genomics, The Hospital for Sick Children
    Program in Genetics and Genome Biology, The Hospital for Sick Children)

  • Zhuozhi Wang

    (The Centre for Applied Genomics, The Hospital for Sick Children
    Program in Genetics and Genome Biology, The Hospital for Sick Children)

  • Richard F. Wintle

    (The Centre for Applied Genomics, The Hospital for Sick Children
    Program in Genetics and Genome Biology, The Hospital for Sick Children)

  • Christian R. Marshall

    (The Centre for Applied Genomics, The Hospital for Sick Children
    Program in Genetics and Genome Biology, The Hospital for Sick Children
    Genome Diagnostics, The Hospital for Sick Children)

  • Ronald D. Cohn

    (Program in Genetics and Genome Biology, The Hospital for Sick Children
    University of Toronto
    Centre for Genetic Medicine, The Hospital for Sick Children
    The Hospital for Sick Children)

  • Rosanna Weksberg

    (Program in Genetics and Genome Biology, The Hospital for Sick Children
    University of Toronto
    The Hospital for Sick Children
    Institute of Medical Science, University of Toronto)

  • Dimitri J. Stavropoulos

    (Genome Diagnostics, The Hospital for Sick Children
    The Hospital for Sick Children)

  • Darcy Fehlings

    (Holland Bloorview Kids Rehabilitation Hospital, University of Toronto)

  • Michael I. Shevell

    (McGill University)

  • Stephen W. Scherer

    (The Centre for Applied Genomics, The Hospital for Sick Children
    Program in Genetics and Genome Biology, The Hospital for Sick Children
    Centre for Genetic Medicine, The Hospital for Sick Children
    University of Toronto)

Abstract

Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age of onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing. Given numerous reports of aetiologic copy number variations (CNVs) in other neurodevelopmental disorders, we used microarrays to genotype a population-based prospective cohort of children with CP and their parents. Here we identify de novo CNVs in 8/115 (7.0%) CP patients (∼1% rate in controls). In four children, large chromosomal abnormalities deemed likely pathogenic were found, and they were significantly more likely to have severe neuromotor impairments than those CP subjects without such alterations. Overall, the CNV data would have impacted our diagnosis or classification of CP in 11/115 (9.6%) families.

Suggested Citation

  • Maryam Oskoui & Matthew J. Gazzellone & Bhooma Thiruvahindrapuram & Mehdi Zarrei & John Andersen & John Wei & Zhuozhi Wang & Richard F. Wintle & Christian R. Marshall & Ronald D. Cohn & Rosanna Weksbe, 2015. "Clinically relevant copy number variations detected in cerebral palsy," Nature Communications, Nature, vol. 6(1), pages 1-7, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8949
    DOI: 10.1038/ncomms8949
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    Cited by:

    1. Svetlana Frenkel & Charles N Bernstein & Michael Sargent & Qin Kuang & Wenxin Jiang & John Wei & Bhooma Thiruvahindrapuram & Elizabeth Spriggs & Stephen W Scherer & Pingzhao Hu, 2019. "Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease," PLOS ONE, Public Library of Science, vol. 14(6), pages 1-16, June.

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