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2 genes influence social behavior, visual-spatial performance in people with Williams syndrome
Date:2/11/2009

SALT LAKE CITYUnraveling the genetics of social behavior and cognitive abilities, researchers at the University of Utah and the Salk Institute for Biological Studies have traced the role of two genes,GTF2I and GTF2IRD, in a rare genetic disorder known as Williams Syndrome.

Their results, published in the Feb. 9, 2009, online edition of the American Journal of Medical Genetics, suggest that GTF2IRD1 contributes to visual-spatial performance while GTF2I plays a role in social behavior. These findings illuminate the most complex aspects of being human.

"Identifying these two genes is the pinnacle of many years' work examining hundreds of cases with Williams syndrome and developing techniques and analyses to find individual genes associated with behavior," says team leader Julie R. Korenberg, M.D., Ph.D., professor and director of the Center for Integrated Neurosciences and Human Behavior at the Brain Institute at the University of Utah and Salk Institute adjunct professor. Korenberg has studied Williams syndrome for more than 15 years through a Program Project from NICHD called "Williams Syndrome: Linking Cognition, Brain and Gene." Collaborating on the behavioral aspects of this disorder has been Ursula Bellugi, professor and director of the Laboratory of Cognitive Neuroscience at the Salk Institute.

To children with Williams Syndrome, people are much more comprehensible than inanimate objects. Despite myriad health problems and generally low IQs, these patients are extremely gregarious, irresistibly drawn to strangers, and insist on making eye contact. The children are confounded by the visual world around them, however: Asked to draw a bicycle, they will show all the parts, but strew them randomly across the page (see figure). This strange mix of mental peaks and valleys drew Korenberg and Bellugi to the disorder.

"Williams syndrome presents a unique lens for discovering the how genes form the brain circuitry res
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Contact: Phil Sahm
801-581-2517
University of Utah Health Sciences
Source:Eurekalert

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