Candidate region for Gilles de la Tourette syndrome at 7q31.
Gilles de la Tourette Syndrome (GTS) is a complex neuropsychiatric disorder characterized by motor and vocal tics. The cause of this syndrome is unknown, although based on family studies there is evidence of a strong genetic component. We report on a 13-year-old boy with GTS, minor physical anomalies, and a de novo partial duplication of chromosome 7q [dup(7)(q22.1-q31.1)]. The distal breakpoint in our patient is similar to the breakpoint of an apparently balanced familial translocation t(7;18) segregating with GTS. Together, these cases provide evidence that a gene located in the breakpoint region at 7q31 can be involved in the formation of GTS.
Kroisel
P M
PM
Institute of Medical Biology and Human Genetics, University of Graz, Graz, Austria. peter.kroisel@kfunigraz.ac.at
Petek
E
E
Emberger
W
W
Windpassinger
C
C
Wladika
W
W
Wagner
K
K
D000293:Adolescent; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D020732:Cytogenetic Analysis; D020440:Gene Duplication; D006801:Humans; D008297:Male; D005879:Tourette Syndrome / Q000235:genetics* / Q000473:pathology