Chromosome 2q37.3 Polymorphic Microdeletion in Association with Autism Spectrum Disorders
University of British Columbia, Department of Medical Genetics
Autism spectrum disorder (ASD) is highly heritable and heterogeneous, implicating multiple genetic mechanisms and genes. A recurrent genomic deletion involving chromosome 2q37 has been reported with autism. A polymorphic deletion distal to the proposed 2q37 region responsible for the autism phenotype (at 2q37.3) has been widely classified as benign since the deletion can be inherited from unaffected parents. However, polymorphic copy number variation (CNV) may be redefined as pathogenic if identified at a higher incidence within affected populations. We have identified an incidence of at least 5.48% amongst 566 ASD subjects, whereas prior literature suggests a 2.02% general population incidence. Preliminary analysis of our ASD cohort has not revealed phenotypic clustering in subjects carrying a 2q37.3 polymorphic deletion noted in the larger proximal 2q37 deletion. We aim to identify clinical and genomic biomarkers that may be indicative of ASD susceptibility involving genomic rearrangements of the 2q37.3 subtelomeric region.