Researchers have identified a new gene variant that is highly common in autistic children. Gene, known as CDH10, is most active in key regions that support language, speech and interpreting social behavior.
In three studies, including the most comprehensive study of autism genetics to date, investigators funded in part by the National Institutes of Health have identified common and rare genetic factors that affect the risk of autism spectrum disorders.
The results point to the importance of genes that are involved in forming and maintaining the connections between brain cells.
“These findings establish that genetic factors play a strong role in autism spectrum disorder,” says Acting NIH Director Raynard Kington, M.D., Ph.D. “Detailed analysis of the genes and how they affect brain development is likely to yield better strategies for diagnosing and treating children with autism.”
Autism spectrum disorders (ASD) comprise a group of disorders with core symptoms that include social interaction problems, poor verbal and nonverbal communication and repetitive behaviors. These disorders range from severe (autism) to mild (Asperger’s syndrome), and in total affect some 1 in 150 American children, about three-quarters of whom are boys. Researchers theorize that the social parts of the brain are underdeveloped in ASD.
“Previous studies have suggested that autism is a developmental disorder resulting from abnormal connections in the brain. These three studies suggest some of the genetic factors which might lead to abnormal connectivity,” says Thomas Insel, M.D., director of NIH’s National Institute of Mental Health (NIMH).
Previous, smaller genetic studies reported a connection between male-only autism and CNTNAP2, a type of neurexin. Together, the three new studies suggest that genetic differences in cell-to-cell adhesion could influence susceptibility to ASD on a large scale. Dr. Hakonarson and his colleagues are planning an even more extensive genome-wide association study to gain a more complete picture of the genes and gene interactions involved in ASD.