Description of the genetic disease William's Syndrome.

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The cause of William's Syndrome is a hemizygous deletion on chromosome 7. One of the genes that is deleted is the LIMK1 gene which codes for the LIMK1 protein. The LIMK1 protein is involved in the regulation of actin in the cytoskeleton. The actin structurally helps cells form and maintain their proper shape. It also pulls sister chromatids apart during mitosis and is required for cell locomotion. ( …

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…Syndrome, are The Williams Syndrome Association and the Williams Syndrome Foundation. Currently, research is focused on identifying genes that are deleted in Williams Syndrome, and also determining the structure and function of the proteins that are coded by the deleted genes. Research is also determining links between genetics, behavior, and brain anatomy in Williams Syndrome individuals. There is a research project in which the brain anatomy of Williams Syndrome individuals is compared to normal individuals.