Autism may stem from a different — and larger — set of genetic mutations in women than it does in men, according to a new study.
The findings support a growing body of evidence suggesting that women require a bigger genetic hit than men do to have conditions that affect brain development, including autism.
Five of the seven genes found in women are on the X chromosome; all five have previously been identified in people with conditions of brain development. The new work shores up these clinical observations, [researcher Tychele] Turner says.
“I think at this point you can say those are really solid genes involved in neurodevelopmental disorders,” she says.
It is unsurprising that the mutations that appear on the X chromosome preferentially affect women, Turner says; women carry two copies of the X chromosome, whereas men carry just one. But autism research rarely focuses on the sex chromosomes; because of the condition’s sex bias, most research has been done in men.
The study “provides some motivation for the field to take a closer look at X-chromosome genes,” [geneticist Donna] Werling says.
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