Article2005

Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome

Jesse F. Abelson · Kenneth Y. Kwan · Brian J. O’Roak · Danielle Y. Baek · Althea A. Stillman · Thomas M. Morgan +17 more

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Obsessive-Compulsive Spectrum Disorders Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Abstract

Tourette's syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 (SLITRK1) as a candidate gene on chromosome 13q31.1 because of its proximity to a de novo chromosomal inversion in a child with TS. Among 174 unrelated probands, we identified a frameshift mutation and two independent occurrences of the identical variant in the binding site for microRNA hsa-miR-189. These variants were absent from 3600 control chromosomes. SLITRK1 mRNA and hsa-miR-189 showed an overlapping expression pattern in brain regions previously implicated in TS. Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS.

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