title: Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature.
abstract: Tourette syndrome (TS) is a complex neuropsychiatric disorder characterized by multiple motor and vocal tics and is often accompanied by comorbidities such as attention deficit hyperactivity disorder and obsessive-compulsive disorder. The complex etiology of TS and its co-occurrence with other disorders impedes linking genetic changes with disease segregation. One of the few genes that has been linked to TS is the SLITRK1 (Slit and Trk-like 1) gene, where four variations have been suggested as possible disease-associated changes. One of these variations, which has been reported in six unrelated TS patients, was a noncoding variant (var321) at the 3'-untranslated region of SLITRK1 within a conserved binding site for microRNA has-mir-189. To elucidate the potential role of var321 in disease pathogenesis, a cohort of 112 deeply phenotyped Danish TS patients was investigated for this variation. We could not detect var321 in the present cohort, suggesting that this is not a common variant among Danish TS patients.
authors.affiliation: Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
authors.forename: Saiqa
authors.initials: S
authors.lastname: Yasmeen
authors.forename: Linea
authors.initials: L
authors.lastname: Melchior
authors.forename: Birgitte
authors.initials: B
authors.lastname: Bertelsen
authors.forename: Liselotte
authors.initials: L
authors.lastname: Skov
authors.forename: Nanette
authors.initials: N
authors.lastname: Mol Debes
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D020413:3' Untranslated Regions; D001483:Base Sequence; D002877:Chromosomes, Human; D017931:DNA Primers; D003718:Denmark; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D005879:Tourette Syndrome / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D017931:DNA Primers; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C505093:SLITRK1 protein, human