Study Finds New Gene Variants That Cause Autism

Scientists working with the Simons Foundation, New York, have discovered rare gene variants that increase the likelihood of a child developing autism. The cause of autism has for a long time plagued scientists.

Data given by the CDC indicates that about 1 in 54 American children develop autism. Although most of them are diagnosed by age 3, some doctors can spot the signs before two years old.

Gene variants are passed from parents without autism

These genes are passed from parents who do not have autism to their children. It is even more common in families where other family members have autism even when the affected child’s parents don’t (multiplex families).

According to Amy B. Wilfert, the lead study author and PhD from the University of Washington, this research has been made possible by new technology and decreased costs of genetic analysis. 

To arrive at their conclusion, the researchers gathered 11,000 people with autism to examine the gene variants passed from their parents.

De novo mutation do not fully explain the cause of autism

The genes linked to autism that have been discovered come from the research done on de novo mutations. However, de novo mutations do little to explain all the genetic causes of autism.

Unlike these new gene variants, these genes are not found in the parents and are first seen in children with autism. The inherited genes that cause autism are different from those affected by de novo mutations. 

Dr. Wilfert adds that inherited genes that cause autism are rarely studies. Most researchers focus instead on de novo mutations. While the inherited gene variants do not cause as much damage as de novo mutations, they affect the same molecular pathways. Fortunately, evolution quickly selects them out after a few generations.

Simons Powering Autism Research (SPARK) contributed some of the genetic researchers for the study. The researchers looked at data from about 21,000 participants given by SPARK. About 6,500 had been diagnosed with autism. 

The results revealed that the new rare gene variants were not among the known gene linked to autism. Researchers also found that children with autism were likely to carry about two of the rare genes compared to their siblings who did not have autism.

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