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

TY - JOUR

T1 - Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature

AU - Yasmeen, Saiqa

AU - Melchior, Linea

AU - Bertelsen, Birgitte

AU - Skov, Liselotte

AU - Debes, Nanette Mol

AU - Tümer, Zeynep

PY - 2013/6

Y1 - 2013/6

N2 - 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.

AB - 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.

U2 - 10.1097/ypg.0b013e328360c880

DO - 10.1097/ypg.0b013e328360c880

M3 - Journal article

C2 - 23528612

SN - 0955-8829

VL - 23

SP - 130

EP - 133

JO - Psychiatric Genetics

JF - Psychiatric Genetics

IS - 3

ER -