Autism linked to disruptions in gene responsible for brain connections

Scientists may have discovered another piece of the autism genetic puzzle. According to a study on autistic spectrum disorder (ASD), disruptions in the Contactin 4 gene, which is responsible for helping the brain make connections, may be linked to ASD. As the study’s lead researcher Dr. Eli Hatchwell of Stony Brook University Medical Center suggests, disruptions in the gene (where the child has either three copies or just one copy of the gene when two is normal) accounts for 2.5 percent of autism causes – a significant number considering autism is likely to have a multitude of genetic causes.

The study, which tested 92 patients from 81 families with ASD and 560 without autism, found 3 individuals with disruptions in their Contactin 4 gene. In comparing their DNA with their parents, researchers also discovered that the mutated genes were inherited from the subject’s fathers who had no history of autism, but might have had mild cases of Asperger's syndrome or similar conditions that went undiagnosed. Hatchwell notes, however, that "Autism is a syndrome”, such that “there will be many, many dozens if not hundreds” of different causes for autism.

Be the first to hear about the most up-to-date news about Autism by signing-up for our site updates.