The "SLIT and TRK like 1" (SLITRK1) gene, located on chromosome 13, encodes an integral membrane protein that shares some homology with TRK neurotrophin receptors. Mutations in the SLITRK1 gene have been associated with Trichotillomania and Gilles De La Tourette syndrome, although some subsequent studies have failed to replicate the findings in different populations. Mutations in SLITRK1 have also been reported as potentially pathogenic for obsessive compulsive disorder (OCD).
SLITRK1 mutations reported as pathogenic (in heterozygous genotypes) for Tourette's and trichotillomania include:
- rs193302861, c.1264delC
- rs191284403, c.*689G>A (+689G-A, 3-PRIME UTR)
- rs1035448844, c.1751G>A (p.R584K)
- rs1368546312, c.1777A>G, (p.S593G)
For OCD, the most robust report of a SLITRK1 mutation so far is likely to be c.1099T<A (p.N400I), which lacks an rsID at this time. An additional mutation, rs150504822 (c.1252T<A; p.T418S), is also potentially OCD-related.[PMID 23990902]