Genetic basis for distinct type of autism uncovered

UW Medicine News | July 08, 2014

Sleep, digestive problems common in autism linked to CHD8 gene variation. A variation in the CHD8 gene has a strong likelihood of leading to a type of autism accompanied by digestive problems, a larger head and wide–set eyes. “We finally got a clear–cut case of an autism–specific gene,” said Raphael Bernier, University of Washington associate professor of psychiatry and behavioral sciences and clinical director of the Autism Center at Seattle Children’s. He is one of the lead authors of a Cell paper published, “Disruptive CHD8 Mutations Define a Subtype of Autism in Early Development.” Scientists at 13 institutions around the world collaborated on the project. In their study of 6,176 children with autism spectrum disorder, researchers found 15 had a CHD8 mutation. All the cases had similarities in their physical appearance as well as sleep disturbances and gastrointestinal problems. To confirm the findings, the researchers worked with scientists at Duke University who study genetically modified zebrafish, a common laboratory model for gene mutation studies. After the researchers disrupted the fish’s CHD8 gene, the small fry developed large heads and wide set eyes. This is the first time researchers have shown a definitive cause of autism from a genetic mutation.

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