SLITRK1

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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's 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.[1][2]

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.[3]

The SLITRK1 gene has also been implicated in a small percentage of cases of trichotillomania, an impulse disorder where the patients compulsively pull their own hair.[4][5]

[edit] Notes

  1. ^ Grados MA, Walkup JT. A new gene for Tourette's syndrome: a window into causal mechanisms? Trends Genet. 2006 Jun;22(6):291-3. PMID 16678301
  2. ^ Abelson JF. et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science. 2005 Oct 14;310(5746):317-20. PMID 16224024
  3. ^ Deng H, Le WD, Xie WJ, Jankovic J. Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome. Acta Neurol Scand. 2006 Dec;114(6):400-2. PMID 17083340
  4. ^ Zuchner S, Cuccaro ML, Tran-Viet KN, et al. "SLITRK1 mutations in trichotillomania." Molecular Psychiatry. 2006 Oct;11(10):887-9. PMID 17003809
  5. ^ Duke Medical News (2006-09-27). "Hair-pulling Disorder Caused by Faulty Gene in Some Families". Press release. Retrieved on 2007-05-08.

[edit] External links

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