According to researchers, rare mutations of a set of genes could be responsible for approximately half of all autism spectrum disorder (ASD) cases.
The researchers found that the “spontaneous” genetic mutations were most likely happen to genes that are considered essential for normal development of the brain.
The findings are based on the collected analyzed data of ASD patients and their families. It suggests that there are approximately 200 “candidate” autism genes that may be vulnerable to the mutations.
These vulnerable genes harbour what’s known as likely gene-disruption (LGD), which can occur “spontaneously” between generations. This accounts for the cases where a child is affected, but the LGD is not evident in either parent.
The theory predicting unaffected mothers being “carriers” of devastating mutations that could possibly be transmitted to children affected with severe ASD was first posited in 2007, by senior author Professor Michael Wigler, and Dr. Kenny Ye, a statistician at Albert Einstein College of Medicine.