UCLA Research Alert

UCLA Scientists Pinpoint Region of Autism Gene on Chromosome 17; Gene Affects Boys Only -- May Explain Autism's Low Incidence in Girls

CONTEXT:
Autism is a complex disease caused by the interaction of multiple genes and environmental influences. As a result, scientists' previous attempts to locate a genetic risk factor have proved inconclusive. No researchers have been able to pinpoint a predisposing gene and then duplicate their efforts -- a key piece of proof required for scientific validity.

FINDINGS:
For the first time, a team of UCLA geneticists have isolated the likely region of an autism gene on chromosome 17 and then successfully duplicated their efforts in a separate population. In an earlier discovery, the scientists were surprised to find that the gene contributes to autism only in boys, perhaps explaining why girls have a dramatically lower risk of developing the disease.

IMPACT:
After twice linking the risk gene to band 17Q21, the UCLA team is now conducting DNA testing to identify the precise site on the chromosome, which will bring them closer to finding the gene mutation. This is the first step to providing better screening and potential treatments for autism.

AUTHORS:
Dr. Dan Geschwind, associate professor of neurology; Rita Cantor, adjunct professor of human genetics; Stan Nelson, professor of human genetics; Jennifer Stone, graduate student researcher; at the David Geffen School of Medicine at UCLA.

JOURNAL:
The research appears in the June 2005 online edition of The American Journal of Human Genetics, http://www.journals.uchicago.edu/AJHG/journal/issues/v76n6/42136/42136.html.

FUNDING:
National Institute of Mental Health.