Autism and intellectual disability could be caused by similar genetic triggers, research suggests.

Scientists from Boston Children’s Hospital and Harvard Medical School, who studied four families consisting of 16 people, have linked mutations in a particular gene to the two disorders.

They discovered two mutations in the CC2D1A gene that prevent the gene’s expression. When inherited from both parents, this lack of gene expression can cause mild to severe intellectual disability, autism, and/or seizures. The scientists then explored the function of this gene through experiments in mice.

The findings, which are published in Cell Reports, have now fed plans for the researchers to investigate what percentage of autism sufferers and people with intellectual disability and autism may carry CC2D1A mutations.

It may also be a chance to find out how the genetic change can cause either intellectual disability or autism as well as exploring how these disorders originate and where they overlap.

Author Christopher Walsh said: “A neuron must perform a very complex balancing act to respond to signals from other cells, and we found that CC2D1A is a key component in controlling this balance.”

He added: “We hope that in the future, by fully understanding how this gene affects signalling in the brain, we may be able to identify drugs to restore the normal signalling balance in neurons and improve cognitive and social function in patients.”

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