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Nat Commun. 2015 Aug 3;6:7949. doi: 10.1038/ncomms8949.

Clinically relevant copy number variations detected in cerebral palsy.

Author information

1
Departments of Pediatrics and Neurology/Neurosurgery, McGill University, Montreal, Quebec, Canada H3H 1P3.
2
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
3
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
4
Department of Pediatrics, University of Alberta, Edmonton, Alberta Canada T6G 2B7.
5
Glenrose Rehabilitation Hospital, Edmonton, Alberta, Canada T5G 0B7.
6
Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
7
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada M5G 1X8.
8
Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
9
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
10
Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada M5G 1X8.
11
Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
12
Holland Bloorview Kids Rehabilitation Hospital, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada M4G 1R8.
13
Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada M5S 1A8.

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.

PMID:
26236009
PMCID:
PMC4532872
DOI:
10.1038/ncomms8949
[Indexed for MEDLINE]
Free PMC Article

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