April 30, 2009
Scientists find new autism gene variant
A U.S. team of scientists says it has conducted the world's largest DNA scan for autism and identified a new gene variant for the disorder.
UCLA scientists, in partnership with 30 research institutions across the nation, said the gene variant -- CDH10 -- is most active in fetal brain regions critical to language, speech and interpreting social behavior. It is highly common in autistic children.
The scientists said their findings suggest CDH10 plays a critical role in shaping the developing brain and might contribute to a prenatal risk of autism.
A variant is a gene that has undergone subtle changes from the normal DNA, yet is shared by a significant portion of the population.
While this gene variant is common in the general population, we discovered that it occurs about 20 percent more often in children with autism, said study author Professor Dr. Daniel Geschwind, director of the UCLA Center for Autism Treatment and Research.
A major change like this in the genetic code is too common to be a simple mutation -- it is a risk factor in the origin of the disease.
The research, along with that of Dr. Hakon Hakonarson of the Children's Hospital of Pennsylvania, appears in the online before-print edition of the journal Nature.