Could a Certain Gene Be Causing Severe Autism in Females?

A group of scientists believe they have discovered a specific gene connected to females with severe autism, a significant finding because autism is typically associated with males. In fact, males are four times more likely to be diagnosed with autism than females, and little research has been centered on females with autism and their families.

The latest study, published in the journal Nature, focused on 13 different women with severe autism who also have family members with autism. Researchers isolated a specific gene called CTNND2 with more mutations than normal, leading them to believe that women may require more gene mutations in order to be diagnosed with autism (this is also called the "female protective effect").

To look beyond the 13 study participants, the researchers also reviewed genetic data from thousands of people involved in past studies. A noticeable pattern was discovered: those with autism were more likely to have mutations on the CTNND2 gene.

As with any study related to autism, more time and research will be needed to fully confirm the findings. But initial data has scientists hopeful about progressing with studies on females and autism in the near future, which may help with understanding and diagnosing autism earlier.

Sherry Huang is a Features Editor for She loves collecting children's picture books and has an undeniable love for cookies of all kinds. Her spirit animal would be Beyoncé Pad Thai. Follow her on Twitter @sherendipitea.

Photo of autism/colorful head silhouettes via Shutterstock

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