Sex-linked mutations point to need for closer look at causes of autism in women, study suggests

| | January 16, 2020
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Image: Lynn Koenig
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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.

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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.

Read full, original post: Autism’s genetic drivers may differ by sex

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