CHD8 Genetic Mutation Linked to Autism


The genetic side of autism fascinates me and so I’m always keeping an eye out for new research that shows a genetic link to the condition. Last week, a researcher at Seattle Children’s Hospital and Research Institute announced that a genetic mutation of CHD8 is linked to autism in some individuals.

Dr. Raphael Bernier, clinical director of Seattle Children’s Autism Center and Associate Professor at the University of Washington, who led the research in collaboration with 13 institutions worldwide, has discovered a mutation of the CHD8 gene that, in addition to significantly increasing a child’s risk of developing a specific subtype of autism, also causes several physical traits and symptoms that are unique to children with the same subtype of autism.

Researchers identified several differentiating physical traits including larger heads and prominent foreheads as well as an increase in gastrointestinal issues. The link between the CHD8 genetic mutation and the physical traits is exciting for researchers who feel that this could lead to in-utero screening for autism.

Even I understand that the earlier autism is diagnosed, the better chance for a more positive outcome but the discovery is slightly disconcerting. Screening for diseases in unborn children is a slippery slope. Some conditions are life threatening while others are just life altering, and so knowledge is power, but is there a fine line that might be crossed?

Regardless of the ethics of genetic testing, the news is positive for researchers dedicated to determining what causes autism. “This will be a game changer in the way scientists are researching autism,” he said. “Children with autism are incredibly diverse so we must determine the genetic causes of different subtypes to find effective treatments.”

Photo: bionicteaching/Flickr

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Source: Seattle Children’s

About Melissa

Melissa is the mother of two children on the autism spectrum and strives to provide information about all aspects of autism through her blog, The Autism Education Site. Follow Melissa on Twitter. Like me on Facebook.

© Melissa Hincha-Ownby and The Autism Education Site, 2008-2014.