title: Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.
abstract: Tourette syndrome (TS) is a childhood-onset complex neurobiological disorder characterized by a combination of persistent motor and vocal tics and frequent presence of other neuropsychiatric comorbidities. TS shares the fate of other complex disorders, where the genetic etiology is largely unknown, and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has been an efficient tool for the cloning of disease genes in several Mendelian disorders and in a number of complex disorders. Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS susceptibility genes.
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, 2600, Denmark.
authors.forename: Birgitte
authors.initials: B
authors.lastname: Bertelsen
authors.forename: Nanette Mol
authors.initials: NM
authors.lastname: Debes
authors.forename: Lena E
authors.initials: LE
authors.lastname: Hjermind
authors.forename: Liselotte
authors.initials: L
authors.lastname: Skov
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D020732:Cytogenetic Analysis; D003718:Denmark; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D005879:Tourette Syndrome / Q000235:genetics*; D014178:Translocation, Genetic