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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Williams syndrome


Other Names for this Disease

  • WBS
  • Williams-Beuren syndrome
  • WMS
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Cause

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What causes Williams syndrome?

Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.[1]

CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that the loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this condition. Studies suggest that deletions of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition.[1]

Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension. The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is unknown.[1]
Last updated: 11/16/2011

References
  1. Williams syndrome. Genetics Home Reference (GHR). March 2008; http://ghr.nlm.nih.gov/condition/williams-syndrome. Accessed 11/16/2011.


Other Names for this Disease
  • WBS
  • Williams-Beuren syndrome
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.