Autism-World

Williams syndrome is a chromosomal condition related to chromosome 7.

The CYLN2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes are associated with 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 20 genes, and researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder.

CYLN2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically SVAS) found in many people with this disease. Studies suggest that deletion of LIMK1, GTF2I, GTF2IRD1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks. Additionally, there is evidence that the loss of several of these genes, including CYLN2, may contribute to the unique behavioural characteristics, mental retardation, and other cognitive difficulties seen in Williams syndrome.

The relationship between other genes in the deleted region and the signs and symptoms of Williams syndrome is unknown.

This entry was posted on Thursday, August 16th, 2007 at 10:22 pm and is filed under Williams Syndrome.