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SLITRK1
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.
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.
== Notes ==
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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