One possible target for ASD test?

March 21, 2008

Up to two and a half percent of the diagnosed autism cases may be because of one specific gene disruption, a recent study found.

Up to two and a half percent of the diagnosed autism cases may be because of one specific gene disruption, a recent study found.

Writing in the Journal of Medical Genetics, lead researcher Eli Hatchwell, MD, PhD, tested 92 patients with autism-spectrum disorder (ASD), and 560 patients without using whole-genome analysis. In multiple cases, a disruption in the gene contactin 4 was found. This could be a cause of the patients' ASD.

Looking for such a marker in the genes may serve as a test to determine the likelihood of ASD. Since ASD is multiple conditions, not one, any "autism test" would need to contain multiple tests and assays. Checking for a contactin 4 disruption could become one such test.