Large Study Underscores Role of Gene Copy Number in Autism

Published June 2, 2014 in Simons Foundation Autism Research Initiative

People with autism tend to carry mutations that duplicate or delete several genes at once, according to a large study published in the American Journal of Human Genetics. Previous studies have shown that people with autism have more large deletions or duplications of DNA, also known as copy number variations (CNVs), than controls do. The new study, the largest to look at CNVs in people with autism thus far, confirms this finding. It also found that in people with autism, the CNVs are more likely to affect genes linked to intellectual disability and fragile X syndrome.

http://sfari.org/news-and-opinion/news/2014/large-study-underscores-role-of-gene-copy-number-in-autism

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