Gene Deletion in People Diagnosed with Autism

In the first ever findings, a recent study shows that gene deletions effecting one or two genes are common in those affected by an Autism Spectrum Disorder (ASD). These deletions could contribute to the risk of development in those diagnosed with an ASD. 

This study published in the American Journal of Human Genetics by researchers at the Icahn School of Medicine at Mount Sinai, scanned hundreds of individuals’ genome and concluded that those diagnosed with an ASD had a higher chance of having gene deletions than those not diagnosed with the disorder. These deletions resulted in those individuals having “one copy of one or more genes when they should have had two.”  The analysis shows that neurons in the brain could be miswired due to the deletions.

            According to the study’s lead investigator, Joseph D. Buxbaum, a professor of Psychiatry, Genetics and Genomic Sciences and Neuroscience, “One of the reasons we are different from each other is because of gene additions or deletions, which are often inherited. But of the extra deletions we see in ASD, not all are due to genetic inheritance. Some occur during the development of the egg or sperm, and deletions that develop in this way tend to be associated with the disorder.”

“This conclusion needs to be expanded in other independent samples of ASD so that we can truly understand how the risk manifests,” said Buxbaum.  To further investigate this, the National Institutes of Health awarded a $7 million grant to the Autism Sequencing Consortium.  At Mount Sinai, researchers will be able to analyze genomes of those with an ASD.


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