Medicine: Sequence variants in SLITRK1 are associated with Tourette's syndrome

Academic Article

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.
  • Authors

    Published In

  • Science  Journal
  • Digital Object Identifier (doi)

    Author List

  • Abelson JF; Kwan KY; O'Roak BJ; Baek DY; Stillman AA; Morgan TM; Mathews CA; Pauls DL; RaĊĦin MR; Gunel M
  • Start Page

  • 317
  • End Page

  • 320
  • Volume

  • 310
  • Issue

  • 5746