SLITRK1 ("SLIT and NTRK-like family, member 1") is a human gene on chromosome 13q31.1. In 2005, medical researchers observed a de novo chromosomal abnormality in a patient with Tourette syndrome (TS) which broke the patient's chromosome near SLITRK1. In screening of additional patients, the authors observed a frameshift mutation in SLITRK1 in a patient with TS and the same rare non-coding variant in two patients with TS. These variants were not found in several thousand controls supporting an association of the variants with TS. Mutations in SLITRK1 were postulated as a rare cause of Tourette syndrome.
It is hypothesized that this mutation in SLITRK1 may be a direct or indirect cause (tourettism) of Tourette syndrome in this small subset (1–2%) of Tourette's patients. The ultimate impact of this research finding to the population of Tourette Syndrome patients as a whole is unclear. SLITRK1, while not a major gene implicated in the cause of Tourette syndrome, can help contribute to understanding of Tourette's.
A subsequent examination of the region of the SLITRK1 gene found the mutation in none of 82 patients with Tourette syndrome. The authors concluded that tests to detect variant(s) in the gene probably would have little diagnostic utility.
- Grados MA, Walkup JT (June 2006). "A new gene for Tourette's syndrome: a window into causal mechanisms?". Trends Genet. 22 (6): 291–3. doi:10.1016/j.tig.2006.04.003. PMID 16678301.
- Abelson JF, Kwan KY, O'Roak BJ et al. (October 2005). "Sequence variants in SLITRK1 are associated with Tourette's syndrome". Science 310 (5746): 317–20. doi:10.1126/science.1116502. PMID 16224024.
- Deng H, Le WD, Xie WJ, Jankovic J (December 2006). "Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome". Acta Neurol. Scand. 114 (6): 400–2. doi:10.1111/j.1600-0404.2006.00706.x. PMID 17083340.
- Chamberlain SR, Menzies L, Sahakian BJ, Fineberg NA (April 2007). "Lifting the veil on trichotillomania". Am J Psychiatry 164 (4): 568–74. doi:10.1176/appi.ajp.164.4.568. PMID 17403968.
- Zuchner S, Cuccaro ML, Tran-Viet KN et al. (October 2006). "SLITRK1 mutations in trichotillomania". Mol. Psychiatry 11 (10): 887–9. doi:10.1038/sj.mp.4001865. PMID 17003809. Lay summary – BBC News (September 29, 2006).
- A summary of the news and medical articles about the SLITRK1 genetic finding in Tourette's syndrome.
- Tourette's and SLITRK1
|This genetics article is a stub. You can help Wikipedia by expanding it.|