Two new gene mutations are linked to autism

Last Sunday, May 2, 2010, at the Pediatric Academic Societies annual meeting in Vancouver, British Columbia, an announcement was made that two new genes that may be associated with autism have been identified by researchers in the field.

One in 110 children is affected by autism spectrum disorder, according to statistics from the Center for Disease Control (CDC). The origin of autism, a neurological condition associated with communication and social deficits in children, is still unknown, though recent breakthroughs in the field of genetic science seem to indicate a link to a person's DNA.

Daniel Notterman, MD, the senior author of the study and a professor of pediatrics, biochemistry, and molecular biology at Penn State College of Medicine in Hershey told WebMD that the evidence for one of the two new “susceptibility genes” is stronger than that for the other. One of the newly discovered gene mutations is in NCAM2 and the other is in PTPRD; NCAM2 is the most likely of the candidates.

Notterman points out that a genetic link doesn't necessarily rule out environmental factors, as gene mutations can be inherited or can occur spontaneously.

The study which led to these breakthroughs was based on data from the Autism Genetic Resource Exchange (AGRE), an autism gene bank made up of data from 3,742 people from 943 families. In most cases, the family included more than one child diagnosed with autism.

Data from the AGRE was compared with gene information from 6,317 "neurotypical" people -- people without neurological disorders or developmental delays.

Check out the complete report on the study at WebMD.

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