Public release date: 3-Oct-2013 [ | E-mail | Share ]

Contact: Mount Sinai Press Office newsmedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine

NEW YORK (October 3, 2013) -- Using powerful genetic sequencing technology, a team of investigators, led by researchers at the Icahn School of Medicine at Mount Sinai, scanned the genome of hundreds of individuals, and discovered those diagnosed with autism spectrum disorder (ASD) were more likely to have gene deletions than were people without the disorder. That means those individuals -- seven percent of the study group -- had one copy of one or more genes when they should have had two.

The scientists further report, in the American Journal of Human Genetics, that their analysis suggests the deletions may result in the miswiring and altered activity of brain neurons.

"This is the first finding that small deletions impacting one or two genes appear to be common in autism, and that these deletions contribute to risk of development of the disorder," says the study's lead investigator, Joseph D. Buxbaum, PhD, Professor of Psychiatry, Genetics and Genomic Sciences and Neuroscience at the Icahn School of Medicine at Mount Sinai.

"This conclusion needs to be expanded in other independent samples of ASD so that we can truly understand how the risk manifests," he says.

That process is now ongoing, Dr. Buxbaum adds. The Autism Sequencing Consortium, a group of over 25 institutions, was awarded a $7 million grant from the National Institutes of Health to continue analyzing the genomes of thousands of ASD individuals at Mount Sinai.

First look for missing genes in autistic population

Autism, which affects about one percent of the population, is a developmental disorder thought to be caused by a complex interplay between genetic and environmental factors. Although the disorder is highly heritable, the majority of autism cases cannot be attributed to known inherited causes, Dr. Buxbaum says.

While research has indicated that there might be as many as 1,000 genes or genomic regions that contribute to ASD, most studies have looked for either single point mutations -- a change in a single letter of DNA on a gene -- or for large areas of the genome, encompassing many genes, that is altered.

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Genetic analysis of individuals with autism finds gene deletions

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