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- SLITRK1 abstract "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.".
- SLITRK1 wikiPageExternalLink tourettes_and_sltrk1.
- SLITRK1 wikiPageExternalLink tourettes-genetic-breakthrough-slitrk1.html.
- SLITRK1 wikiPageID "3030329".
- SLITRK1 wikiPageLength "3491".
- SLITRK1 wikiPageOutDegree "8".
- SLITRK1 wikiPageRevisionID "679040363".
- SLITRK1 wikiPageWikiLink Category:Etiology.
- SLITRK1 wikiPageWikiLink Category:Human_genes.
- SLITRK1 wikiPageWikiLink Category:Tourette_syndrome.
- SLITRK1 wikiPageWikiLink Frameshift_mutation.
- SLITRK1 wikiPageWikiLink Gene.
- SLITRK1 wikiPageWikiLink Tourette_syndrome.
- SLITRK1 wikiPageWikiLink Tourettism.
- SLITRK1 wikiPageWikiLink Trichotillomania.
- SLITRK1 wikiPageWikiLinkText "SLITRK1".
- SLITRK1 wikiPageUsesTemplate Template:Genetics-stub.
- SLITRK1 wikiPageUsesTemplate Template:Reflist.
- SLITRK1 subject Category:Etiology.
- SLITRK1 subject Category:Human_genes.
- SLITRK1 subject Category:Tourette_syndrome.
- SLITRK1 hypernym Gene.
- SLITRK1 type Protein.
- SLITRK1 type Disorder.
- SLITRK1 type Syndrome.
- SLITRK1 comment "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.".
- SLITRK1 label "SLITRK1".
- SLITRK1 sameAs Q7390959.
- SLITRK1 sameAs m.08lqvz.
- SLITRK1 sameAs Q7390959.
- SLITRK1 wasDerivedFrom SLITRK1?oldid=679040363.
- SLITRK1 isPrimaryTopicOf SLITRK1.