“Children with mutations in a gene called DDX3X have unusually small folds in their brains, a condition called Polymicrogyria.”
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.
MRI scans of these children with Autism show abnormally small folds in the brain.
This find indicates a direct link between Autism Spectrum Disorder and Polymicrogyria which is present in many cases of Schizencephaly.
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