Inheritance and Genetics of Williams Syndrome

Williams Syndrome: Genetics Information

Genetics of Williams Syndrome: In Williams syndrome individuals, both the gene for elastin and an enzyme called LIM kinase are deleted. Both genes map to the same small area on chromosome 7. In normal cells, elastin is a key component of connective tissue, conferring its elastic properties. Mutation or deletion of elastin lead to the vascular disease observed in Williams syndrome. On the other hand, LIM kinase is strongly expressed in the brain, and deletion of LIM kinase is thought to account for the impaired visuospatial constructive cognition in Williams syndrome. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Williams Syndrome refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.

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