AUTS2 Isn’t As Connected to Autism As Believed (Source: Spectrum News)

Mutations continue to be the centerpiece of ASD research as scientists are constantly finding new information about how genes and their mutations interact to cause symptoms. The most recent study shed light on the true nature of a gene linked to autism, called AUTS2.
The study focused on disproving the belief that AUTS2 is the cause of autism’s social communication issues, and that a change in the mutation very rarely leads to autism, though it often paves the way for intellectual disabilities. Once the gene begins to be taken away, it could result in small heads, delays in development, a small chin, or arched eyebrows.
The researchers collected data from 13 participants between the ages of 11 months to 59-years-old. Three of the participants were from the original study starting in 2013, and all 13 had a type of cognitive disability. Eleven out of the 13 subjects had small heads and repetitive behavior, approximately 83 percent.
An additional conclusion of the study was that AUTS2 deletions at the beginning of the gene were much more mild than deletions at the end. At the end, the deletions were spontaneous, while they were slight and inherited from a parent at the beginning of the gene.
While the intellectual disabilities displayed in the study were potent from adolescence, they began to decrease with age.
Erik Sistermans is the lead of genome diagnostics at Vrije University Medical Center in Amsterdam, as well as the lead researcher of this study. He believes that as a researcher, he needs to share the conclusions with those outside of the autism research field.
“This is very important for genetic counseling,” Sistermans says. “It is important for parents to know that these children do not really deteriorate, that [the syndrome] is rather stable once they grow up.”
For more information, check out the source for this blog post, Spectrum News.
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