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Gene mutation linked to distinct type of autism

10:26am Tuesday 8th July 2014 content supplied byNHS Choices

As a follow-up study, the researchers disrupted the CHD8 gene in zebra fish - a popular research animal for genetic manipulation as they breed very quickly and adapt well to being housed in aquariums. They found the effects of this were broadly similar to ASD type symptoms in humans including larger head size as results of expansion of the forebrain and midbrain, and impairment of gastrointestinal motility.


How did the researchers interpret the results?

The researchers concluded their findings "suggest that CHD8 disruptions represent a specific pathway in the development of ASD and define a distinct ASD subtype".



This study used many thousands of children to identified mutations in the CHD8 gene that were associated with the development of ASD. Much less convincing was the finding that CHD8 mutations might be associated with distinct characteristics within the spectrum of disease, potentially representing a genetically defined subtype, as this was based on just 15 people.

Identifying subtypes of ASD is important to guide diagnosis, prognosis and disease management to maximise quality of life. This study is interesting because most categorisation of ASD has focused on behavioural dimensions. By contrast, this study flipped this on its head and looked at the genetic dimension of the disease, which revealed some statistically significant links.

Knowing this gene-disease link will help researchers understand the biological origins of the disease, which improves the chance of treatments being discovered or better ways to manage symptoms of the conditions to improve quality of life.

This is relatively early stage research; the genetic test will need to be further tested and validated in large and diverse groups to ensure it accurately identifies people with ASD and or any subtypes.

Today this test does not help people with ASD, but it does help pave the way for potential improvements in the future.

Analysis by Bazian. Edited by NHS Choices. Follow Behind the Headlines on Twitter. Join the Healthy Evidence forum.


"Have scientists found the autism gene?" asks the Mail Online. The news is based on a genetic study that found children with autism spectrum disorder (ASD) were more likely to have a mutation in a gene called CHD8 than children without the disorder.

Links to Headlines

Have scientists found the autism GENE? Breakthrough as specific link between DNA and the condition is discovered. Mail Online, July 7 2014

Links to Science

Bernier R, Golzio C, Xiong B, et al. Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development. Cell. Published online July 6 2014

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