Objectives: This study aims at detecting de novo and transmitted CNV regions associated with autism in order to increase the specificity of other genetic analysis methods used to detect susceptibility variants.
Methods: A search for copy number variants conferring risk of autism was carried out through a population study of autistic individuals ascertained through the
Results: We identified more than 20 genomic regions containing large CNVs. Some of these regions were known to harbour CNVs previously identified in autistic individuals e.g. chromosome 1q, 2q, 15q, 16p, 17p and 22q. A few novel regions were detected. All regions were examined for association with autism in the Icelandic cohort.
Conclusions: Studies focusing on CNVs can find regions associated with autistic phenotypes increasing the specificity of other genetic analysis methods used to detect susceptibility variants.