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Autism Center of Excellence
CNNH BLOG: Functional impact of global rare copy number variation in autism spectrum disorders
Date Posted: August 14, 2012
FROM THE DESK OF MARK MINTZ, MD…
Results of the Phase II Autism Genome Project identified over 250 genes with copy number variations (CNV is, for example, DNA insertions/deletions).
Many of these genes are involved with cellular proliferation, projection and motility and/or cell-to-cell signaling/synaptic formation, thus adding further molecular information/confirmation concerning the “disconnectivity” theories for the neurological basis for (some) autism spectrum disorders (ASD).
CNVs were 19% more common in autism than controls and 69% more common when interfering with genes implicated with autism. Individual CNVs effect only 1% of subjects, and thus are rare, but with relatively high penetrance (i.e. the possession of a gene will likely lead to an ASD); although there were others with low penetrance, and thus, require other unknown genetic (such as additional “risk” genes) or environmental factors to cause an ASD, and thus, may never cause an ASD. So, as expected, the genetics of autism will be quite complex and broad, with many different and unique genotypes (i.e. genes) leading to similar phenotypes (i.e. the expression of genes, or in this case the final common behavioral/developmental pathway known as ASD). The researchers found different and disparate gene/CNV variations can effect the same gene(s), and that many CNVs were de novo although a proportion were inherited.