Clinically relevant copy number variations detected in cerebral palsy

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 Weksberg, Dimitri J. Stavropoulos, Darcy Fehlings, Michael I. Shevell and Stephen W. Scherer ()
Additional contact information
Maryam Oskoui: McGill University
Matthew J. Gazzellone: The Centre for Applied Genomics, The Hospital for Sick Children
Bhooma Thiruvahindrapuram: The Centre for Applied Genomics, The Hospital for Sick Children
Mehdi Zarrei: The Centre for Applied Genomics, The Hospital for Sick Children
John Andersen: University of Alberta
John Wei: The Centre for Applied Genomics, The Hospital for Sick Children
Zhuozhi Wang: The Centre for Applied Genomics, The Hospital for Sick Children
Richard F. Wintle: The Centre for Applied Genomics, The Hospital for Sick Children
Christian R. Marshall: The Centre for Applied Genomics, The Hospital for Sick Children
Ronald D. Cohn: Program in Genetics and Genome Biology, The Hospital for Sick Children
Rosanna Weksberg: Program in Genetics and Genome Biology, The Hospital for Sick Children
Dimitri J. Stavropoulos: Genome Diagnostics, 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

Nature Communications, 2015, vol. 6, issue 1, 1-7

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms8949

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