Authors
Jesse F Abelson, Kenneth Y Kwan, Brian J O'Roak, Danielle Y Baek, Althea A Stillman, Thomas M Morgan, Carol A Mathews, David L Pauls, Mladen-Roko Rasin, Murat Gunel, Nicole R Davis, A Gulhan Ercan-Sencicek, Danielle H Guez, John A Spertus, James F Leckman, Leon S Dure IV, Roger Kurlan, Harvey S Singer, Donald L Gilbert, Anita Farhi, Angeliki Louvi, Richard P Lifton, Nenad Sestan, Matthew W State
Publication date
2005/10/14
Journal
Science
Volume
310
Issue
5746
Pages
317-320
Publisher
American Association for the Advancement of Science
Description
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.
Total citations
Scholar articles
JF Abelson, KY Kwan, BJ O'Roak, DY Baek… - Science, 2005