Identification of the Gene Disrupted by a Chromosomal Breakpoint in two Unrelated Families

Grant Type
Grant Year
Institution Location
Institution Organization Name
Roscamp Institute
Investigators Name
Crawford, Fiona, PhD

In previous work we identified a specific chromosomal disruption in two unrelated patients with Tourette Syndrome. The location of specific chromosomal breaks that occur in patients, but not in their unaffected family members, can point the way to genes involved in the cause of the disorder in question. Initially we identified the break as occurring in a region of the chromosome of approximately 20 million base pairs in size. We then narrowed down the position of the chromosomal break to a 200,000 base pairs region; a relatively small portion of the entire human genome. This particular finding was promising because the patients were unrelated and thus the co-existence of the gene disruption and TS was less likely to be a chance occurrence and more likely that the gene was involved in causing TS. With this TSA funding, we hope to identify the disrupted gene and characterize the protein which it encodes. In addition we will work to explore the possible mechanism through which this disruption may contribute to the occurrence of TS. It should be noted that chromosomal breaks are rare, and all people with TS do not have a disruption of this gene, but in other patients, its function may be modified in some way. Ultimately, by finding out the normal function of this protein and the effects of disrupting its normal behavior, we may better understand at least one of the factors contributing to the development of TS. Fiona C. Crawford, Ph.D., Roscamp Institute, Sarasota, FL Award: $75,000 Generous support for this study has been contributed by Diane & Darryl Mallah in honor of Gerald Erenberg, M.D. for years of unfailing service to improving medical care for all people with TS Tourette Association of America Inc. – Research Grant Award 2003-2004