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20 April 2024

» pubmed » pmid16224024

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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 ; 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 ; Roger Kurlan ; Harvey S Singer ; Donald L Gilbert ; Anita Farhi ; Angeliki Louvi ; Richard P Lifton ; Nenad Sestan ; Matthew W State ;
Date:	14 Oct 2005
Journal:	Science, 310 (5746), 317-20
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.
Source:	PubMed, pmid16224024 doi: 10.1126/science.1116502
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