X marks the spot in search for autism variants
Previously unrecognized genetic changes on the X chromosome of autistic people could explain the higher prevalence of the condition among men and boys than among women and girls, according to two new studies. About 60 variants are more common in people with autism than in those without the condition, an analysis of roughly 15,000 X chromosomes revealed.
Several of the variants are in Xp22.11, a region of the X chromosome linked to autism in boys and men. In the second study, the team pinpointed 27 autism-linked variants in DDX53, one of the genes in the vulnerable region that had not been tied to the condition in past research.
Those findings could help explain why autism is diagnosed three to four times more often in boys than girls, according to the study investigators, led by Stephen Scherer, chief of research at SickKids Research Institute.
It’s been a dirty little secret that for a long time the X chromosome has not been well interrogated from a genetics perspective.
