Newly identified mutations clarify gene’s link to autism, intellectual disability

Researchers first linked DDX3X to autism in 2014, and to intellectual disability the following year. The gene is located on the X chromosome, so mutations primarily affect girls; most boys with mutations in the gene are thought to die in utero.

Up to 3 percent of girls with unexplained intellectual disability have a mutation in DDX3X. About half of them are also likely to have autism, says co-lead investigator Elliott Sherr, professor of neurology at University of California, San Francisco. Read more here: Newly identified mutations clarify gene's link to autism, intellectual disability