University of Illinois at Chicago researchers are part of an international consortium working with Autism Speaks, the world's largest autism science and advocacy organization, which today reports new autism genetic discoveries.
The new report shows that individuals with autism tend to carry more sub-microscopic insertions and deletions called copy-number variants (CNV) in their genome than nonautistic people do. Some of these CNV appeared to be inherited, while others are considered new because they are found only in affected offspring and not in the parents. Taken together, more of the CNVs disrupt genes previously reported to be implicated in intellectual disability without autism or in autism than expected by chance.
These findings further support an emerging consensus within the scientific community that autism is caused in part by many "rare variants" or genetic changes found in less than 1 percent of the population. While each of these variants may only account for a small fraction of the cases, collectively they are starting to account for a greater percentage of individuals in the autism community, as well as providing insights into possible common pathogenic mechanisms.
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