SLITRK1

Tourette syndrome

Mutations involving the SLITRK1 gene have been identified in a small number of people with Tourette syndrome. One of these mutations, written as del1264C, deletes a single DNA building block (base pair) from the gene. This mutation leads to the production of an abnormally short, nonfunctional version of the SLITRK1 protein. Another mutation changes a single base pair in a region of DNA near the gene. This change probably interferes with production of the SLITRK1 protein. Although the SLITRK1 gene is active in areas of the brain known to be involved in Tourette syndrome, it is unclear how mutations in or near the gene lead to the behavioral features of this condition. Because mutations have been reported in so few people with Tourette syndrome, the association of the SLITRK1 gene with this disorder has not been confirmed.