Browsing by Author "Mosca, Stephen"

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    Discovery and Characterization of Rare Genomic Copy Number Variants in Children with Developmental Coordination Disorder
    (2013-10-02) Mosca, Stephen; Bernier, Francois; Parboosingh, Jillian
    Developmental coordination disorder (DCD) is a common neurodevelopmental disorder characterized by functional motor performance deficits. Recent studies have demonstrated that the genetics of neurodevelopmental disorders can partially be explained by rare copy number variants (CNVs). To assess the role CNVs may play in the genetics of DCD, the genomic landscape of CNVs was explored in 82 children with DCD, compared to 2,988 European controls. We were able to demonstrate that children with DCD had increased rates of rare and large total (p=0.018) and genic (p=0.009) CNVs, which were enriched for deletions spanning brain-expressed (p=0.039) and neurodevelopmental (p=0.043) genes. Variants that overlapped genes that have been previously implicated in other neurodevelopmental disorders were also identified. Furthermore, one case allowed us to refine the motor phenotype seen in patients harboring 22q11.2 distal deletions. Together these results suggest that DCD has a genetic component that shares an underlying etiology with other neurodevelopmental disorders.