Journal
NATURE COMMUNICATIONS
Volume 6, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms8949
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Funding
- GlaxoSmithKline-CIHR Chair in Genome Sciences at the University of Toronto
- NeuroDevNet Network of Centres of Excellence (NDN-NCE)
- Reseau de recherche sur le developpement, la santeet le bien-etre de l'enfant (RSDE) des Fonds de Recherche en Sante du Quebec (FRSQ)
- Canadian Institutes of Health Research (CIHR)
- Genome Canada
- University of Toronto McLaughlin Centre
- NDN-NCE
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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 (similar to 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.
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