New genetic clues to autism

Genetic data collected by teams at Great Ormond Street Hospital and its research partner the UCL Institute of Child Health, has helped to identify new gene mutations that may cause autism. 

By studying DNA samples from children with autism and their parents, the research shows that, while many of these new mutations occur only in children with the disorder, a significant number occur in both children and their parents.

Autism spectrum disorder (ASD) is a lifelong developmental disability that affects around 700,000 people in the UK and influences how individuals communicate and interact with other people. Studies have so far suggested that ASD may be caused by genetic mutations within individuals that stop genes functioning in a normal way. These mutations don’t, however, account for all cases of autism therefore research in to underlying causes of the condition continues.

A study led by teams in New York, and published in Nature, now identifies over 100 genes that contain new mutations that may play a role in ASD. The genes were identified by scanning 15,480 DNA samples collected from across the world. The largest contribution of samples from the UK came from Great Ormond Street Hospital that collected 361 samples over a period of around 10 years and submitted them to the study as part of the Wellcome Trust’s UK10K project.

As well as identifying genetic mutations that occur only in the individual with the ASD, new technology has allowed the researchers to analyse 2270 trios – a child with the disorder, plus their mother and father – and find that a significant number of these new mutations appear in both parent and child and are likely to be inherited. Scanning for new and inherited gene mutations together using this technology led the team to double the number of ASD related genes being identified.

David Skuse, Head of the Social Communication Disorders Team at Great Ormond Street Hospital and co-author of this research says: “This work is very important as it brings us closer to interpreting genetic data from families affected by autism. It could be used during genetic counselling to start explaining to families why their child may have the condition and what their likelihood of having further children with ASD might be.

“Building a resource of genes that are implicated in the disorder may also encourage more commercial investment in to research in to this condition in order to improve treatment options.”

The discovery of these gene mutations advances our understanding of a condition that affects around 1.1 per cent of the UK population and could lead to strategies to better support individuals with a diagnosis.