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Salk News: Social behavior genes

nd physical features, certain cardiovascular problems and mild to moderate mental retardation.

However, in addition to their very extroverted natures, as adults Williams patients also possess unusually adept language skills given their level of general cognitive abilities. Bellugi and her laboratory have been studying the syndrome for years in an effort to understand how language is processed in the brain and what genes may be involved.

Very rarely, an individual with Williams syndrome has a slightly smaller or larger gene deletion than is typical for the syndrome. The researchers analyzed the genetic deletion of a two-year-old girl with Williams syndrome who did not exhibit this especially outgoing behavior.

She was shy around strangers, and scored significantly lower on sociability measures, much more resembling 2-year-old children without Williams syndrome. It was found that this girl retained at least one gene that most people with the disorder have missing. This indicated that the gene (or genes) she retained might be altering the hyper-sociability usually observed among children with Williams syndrome.

"We don't know at this point whether these genes are involved in regulating social behavior in the general population, or whether their involvement is specific to Williams syndrome," said Bellugi. "We will need to conduct tests in more patients who do not have all the gene deletions seen in typical Williams syndrome, and compare and contrast genetics and behavior."


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Contact: Andrew Porterfield
Porterfield@salk.edu
858-453-4100 x1340
Salk Institute
20-Aug-2003


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