D.M. Miranda and K. Wigg contributed equally to this work.
Article first published online: 1 AUG 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 147B, Issue 1, pages 68–72, 5 January 2008
How to Cite
Miranda, D.M., Wigg, K., Feng, Y., Sandor, P. and Barr, C.L. (2008), Association study between gilles de la tourette syndrome and two genes in the robo-slit pathway located in the chromosome 11q24 linked/associated region. Am. J. Med. Genet., 147B: 68–72. doi: 10.1002/ajmg.b.30580
Please cite this article as follows: Miranda DM, Wigg K, Feng Y, Sandor P, Barr CL. 2007. Association Study Between Gilles de la Tourette Syndrome and Two Genes in the Robo-Slit Pathway Located in the Chromosome 11q24 Linked/Associated Region. Am J Med Genet Part B 147B:68–72.
- Issue published online: 14 DEC 2007
- Article first published online: 1 AUG 2007
- Manuscript Accepted: 5 JUN 2007
- Manuscript Received: 13 NOV 2006
- The Tourette Syndrome Association of America
- NIH. Grant Number: MS40024-01
- Ontario Mental Health Foundation
- The Tourette Syndrome Foundation of Canada
- CFRB Radio Station (Toronto)
- Gilles de la Tourette Syndrome;
- axonal pathfinding;
Gilles de la Tourette Syndrome (GTS) is an inherited neuropsychiatric disorder characterized by the presence of motor and phonic tics. Previous genetic studies have identified linkage and association between GTS and the 11q24 chromosomal region. We selected for study, within this region, two possible susceptibility genes for GTS, the ROBO3 and ROBO4 genes. These two genes were selected because of the recent identification of SLITRK1 as a potential susceptibility gene for GTS based on a translocation breakpoint and the further finding of two mutations in the SLITRK1 gene in three patients with GTS. While thus far, the SLITRK1 gene appears to account for only a few cases of GTS, these findings, if confirmed, point to other genes in these pathways that may contribute to GTS. Based on this, we examined two genes in the Slit-Robo pathway involved in cell migration, axonal pathfinding, and/or neuronal differentiation because of their location in 11q24, a region previously identified as linked and associated with GTS. We selected six haplotype tagging single nucleotide polymorphisms (SNPs) for ROBO3 and four for ROBO4 and genotyped them in our sample of trios and sibpair families diagnosed with GTS. Based on 155 nuclear families with 255 affected children, we did not find evidence for association between GTS and either the ROBO3 or ROBO4 genes. Thus, these two genes are unlikely to be the susceptibility genes contributing to GTS on 11q24. © 2007 Wiley-Liss, Inc.