Autism "hot spots" in the genes

January 11, 2008

A pair of recent studies bolstered evidence of autism's genetic origin...

A pair of recent studies bolstered evidence of autism's genetic origin.

In the January 10 issue of the American Journal of Human Genetics, Aravinda Chakravarti, PhD, et al reported that a specific mutation in the gene CNTNAP2 raises the risk of autism, particularly if it passes via the mother's genes. The gene had previously been linked to autism, but this study tracked a specific mutation.

Another study, published in the New England Journal of Medicine by Mark J. Daly, PhD, et al, tracked genetic "hot spots" in the genes of those with autism. It found that in over 1% of people with autism, the same 25 genes duplicated itself over and over. Sometimes the genes themselves were written over.

This discernable genetic damage could be used to make diagnoses for children who show signs of an autistic-spectrum disorder.