Discovery and Characterization of Rare Genomic Copy Number Variants in Children with Developmental Coordination Disorder

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.

Name thesis:degree_name

Master of Science (MSc)

Discipline thesis:degree_discipline

Medical Science

Grantor dc:publisher.institution

Graduate Studies

Year dc:date.issued

2013

Author dc:creator

• Mosca, Stephen

Advisors dc:contributor.advisor

• Bernier, Francois
• Parboosingh, Jillian

• Genetics

Statement dc:rights

• University of Calgary graduate students retain copyright ownership and moral rights for their thesis. You may use this material in any way that is permitted by the Copyright Act or through licensing that has been assigned to the document. For uses that are not allowable under copyright legislation or licensing, you are required to seek permission.

Language dc:language.iso

eng

DOI

http://dx.doi.org/10.11575/PRISM/25719

OAI identifier oai:identifier

oai:ucalgary.scholaris.ca:11023/1110