Sequence analysis of the complete SLITRK1 gene in Austrian patients with Tourette's disorder.
Mutations in the gene SLITRK1 (Slit and Trk-like 1) have been reported in patients with Tourette's disorder (TD). We sequenced the entire SLITRK1 gene including the coding region the 5' and 3' untranslated region in 92 Austrian patients with TD. No nucleotide changes within the protein-coding region were identified. One patient was found to carry a variant within the 3' untranslated region (3383g>a), which was absent in 192 control individuals and which segregated in two additional family members with tic symptoms. In conclusion, our results provide no evidence for SLITRK1 playing a major role in TD.
Zimprich
Alexander
A
Department of Neurology, Medical University of Vienna, Austria. alexander.zimprich@meduniwien.ac.at
Hatala
Katharina
K
Riederer
Franz
F
Stogmann
Elisabeth
E
Aschauer
Harald N
HN
Stamenkovic
Mara
M
D001317:Austria; D016022:Case-Control Studies; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D005879:Tourette Syndrome / Q000235:genetics*
D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C505093:SLITRK1 protein, human