Skip to content

Autism Spectrum Disorders Health Center

New Genetic Clues to Autism Found

2 New Gene Mutations Linked to Autism
Font Size
A
A
A

Tracking the Autism Genes continued...

Next, Notterman's team validated the finding to see if the genes were expressed in the brain. They found that NCAM2 was ''expressed in some regions of the brain that may be associated with autism -- the hippocampus and the cerebellum."

''Many of the genes described [recently as having a link to autism] are genes involved in the synapse," Notterman says. A synapse is a specialized junction at which a nerve cell communicates with another cell.

The genetic mutation of NCAM2 is probably rare, Notterman says. "We would estimate that 0.5% or fewer of kids with autism have the NCAM2 [mutation]."

"About six to 10 rare genetic mutations to date have been associated with autism," Notterman says. "Most people working in the field predict there will be 50 to 100."

Some parents and siblings of the children with autism were found to have the NCAM2 mutation but not the disorder, which the researchers expected to find. This suggests other genetic factors or environmental triggers play a role.

Notterman conducted the research while at Princeton University. The research was supported by the Simons and Nancy Laurie Marks Foundations and the AGRE Consortium.

Tracking Autism Genes: Implications

While there is no immediate application of the discovery for parents, Notterman says the new research suggests that ''science is probably on the right track over the next decade to understand much more about the basic biology of autism.''

The recurring theme recently, he says, is the finding of structural variations in the DNA that cause mutations in the genes affecting the synapses.

Second Opinion

The new findings reflect the complexity of the origin of autism, says Daniel Coury, MD, chief of developmental and behavioral pediatrics at Nationwide Children's Hospital in Columbus, Ohio, and medical director of the Autism Treatment Network, a consortium of 14 U.S. and Canadian sites focused on improving treatment.

''There was the popular belief that we were going to find 'the gene,'" says Coury, who reviewed the study results for WebMD.

''That got expanded," he says, as ongoing research turned up several more genetic mutations associated with autism.

Today on WebMD

girl at window
Symptoms within the first 2 years of a child’s life.
boy playing a violin
How is this condition similar to autism?
 
toddler blinking
Learn about the 5 types of PDD.
preschool age girl sitting at desk
What causes this rare form of autism?
 
High Functioning Autism And Asperge Syndrome
Article
Gluten Free Diet Slideshow
Article
 
Dealing With Autism A Familys Journey
Article
Vaccine and needle
VIDEO
 
little boy walking in road
Article
Mother hugging teenage son
Article
 
Understanding Rett Syndrome
Article
Home Care Tips
Article