First gene identified with autism

For the very first time, a variation in a gene has been linked to a subtype of autism. While other genes have been found where particular alleles (versions) show a correlation to autism, these have also been linked to other conditions, often more strongly, and not to specific autism characteristics.

The gene CHD8 has been a particular target for autism research in recent years, with the manufacturing of the associated protein shown to be disrupted in some people with Autism Spectrum Disorder (ASD), but not in healthy controls.

In their paper, Dr Raphael Bernier of the University of Washington and co-authors at twelve other institutions note, “Although various behaviorally defined subtypes have been proposed, these have not been tied to genetic etiology [causes], linked to treatment indicators, nor diagnosed consistently by expert clinicians.”

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Read the full, original story: Researchers discover genetic link to autism