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Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature

Yasmeen, Saiqaa*; Melchior, Lineaa*; Bertelsen, Birgittea; Skov, Liselotteb; Debes, Nanette Molc; Tümer, Zeynepa,d

doi: 10.1097/YPG.0b013e328360c880
Brief Reports

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.

aApplied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup

bThe Tourette Clinic, Department of Pediatrics, Herlev University Hospital, Herlev

cDepartment of Pediatrics, Næstved Hospital, Næstved

dInstitute for Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark

*Saiqa Yasmeen and Linea Melchior contributed equally to the writing of this article.

Correspondence to Linea Melchior, PhD, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark Tel: +45 432 60109; fax: +45 434 31130; e-mail: linea.cecilie.melchior@regionh.dk

Received July 12, 2012

Accepted November 15, 2012

© 2013 Lippincott Williams & Wilkins, Inc.