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

“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.

For more information on this study




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