Newly identified mutations clarify gene’s link to autism, intellectual disability
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Understanding these relationships will be important to ensure that people get the right treatments for the particular mutations they carry, says Tychele Turner, assistant professor of genetics at Washington University in St. Louis.
“Actually getting down to the functional aspect of these genes, and not just the genes but the mutations within them, is really critical,” Turner says. “And I think this study is showing exactly why, in terms of DDX3X.”
Because mutations in the gene largely affect girls, Turner says, a deeper understanding of its function could also help illuminate sex differences in conditions of brain development.