Food and Behaviour Research

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3 July 2014 - ScienceDaily - Genetic link to autism found, known as CHD8 mutation

In a collaboration involving 13 institutions around the world, researchers have broken new ground in understanding what causes autism.

FAB RESEARCH COMMENT:

Find the underpinning research article here:  Bernier et al 2014 - Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
This is the first time researchers have shown a definitive cause of autism to a genetic mutation. Previously identified genetic events like Fragile X, which account for a greater number of autism cases, are associated with other impairments, such as intellectual disability, more than autism.

"We finally got a clear cut case of an autism specific gene," said Raphael Bernier, the lead author, and UW associate professor in the Department of Psychiatry and Behavioral Sciences and the clinical director of the Autism Center at Seattle Children's.

Bernier said people with a mutation in the CHD8 gene have a very "strong likelihood" that they will have autism marked by gastrointestinal disorders, a larger head and wide set eyes.

In their study of 6,176 children with autism spectrum disorder, researchers found 15 had a CHD8 mutation and all these cases had similar characteristics in appearance and issues with sleep disturbance and gastrointestinal problems.