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Region Hovedstaden - en del af Københavns Universitetshospital
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Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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Vis graf over relationer
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.
OriginalsprogEngelsk
TidsskriftPsychiatric Genetics
Vol/bind23
Udgave nummer3
Sider (fra-til)130-33
ISSN0955-8829
DOI
StatusUdgivet - 2013

ID: 38400493