Canadian researchers discover genetic mutation that may explain higher rates of autism in boys

Canadian researchers have narrowed in on a genetic trend found in some young males that may explain why autism is four times more likely to occur in boys than girls.

 

Researchers, led by Dr. John Vincent, head of the Centre for Addiction and Mental Health (CAMH) reported in the journal Science Translational Medicine that a small percentage of boys with autism carry a gene mutation that's not seen in those without the condition.

 

The mutated gene is called PTCHD1 and is located on the X chromosome. Looking at the gene sequences of 2,000 individuals diagnosed with Autism Spectrum Disorder, researchers found about 1% of boys with austism had mutations in the PTCHD1 gene on the X-chromosome.

 

Similar mutations were not found in other boys used as a control group in the study, and girls seemed to be unaffected by it, due to the fact that they have a second X chromosome. Therefore, any mutation found in one X chromosome can be compensated by the gene in the other, according to Dr. Vincent.

 

An estimated 190,000 Canadians have autism spectrum disorder, or roughly one in 70 boys. It ranges in severity, but often includes problems communicating and interacting with others, as well as unusual patterns of behaviour.

 

By next January, the research team hopes to have a test that will identify autistic boys with the mutation. That would allow any younger brothers to be tested at a young age.

 

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