Skip to main content
. 2012 Sep 4;2(9):e158. doi: 10.1038/tp.2012.75

Table 1. The five genes directly disrupted in Tourette syndrome by unique genomic lesions.

Gene Locus Function Co-morbidities DNA lesions Other
NRXN1a 2p21 Neurexin 1 synapse ADHD Two truncating deletions45 T
NRXN4/CNTNAP2b 7q35 Neurexin superfamily OCD, MR, SD Intragenic insertion46 c,d
IMMP2La (LRRN3) 7q31 (Neural development) MR, SD Two exonic deletions39, 40 T, SA, R, Dup35
CTNNA3a (LRRTM3) 10q21 (Neurexin ligand) OCD, ADHD Two intragenic deletions45 SA
NLGN4Xb Xp22.33 Neurexin ligand ASD Truncating deletion36 XM43

Abbreviations: ADHD, attention deficit/hyperactivity disorder; ASD, autism spectrum disorder; BD, block deletion associated with TS; Dup, duplication in TS; LS, linkage region of interest; MR, mental retardation; OCD, obsessive-compulsive disorder; R, most commonly duplicated locus in ASD; SA, strong polymorphic association with ASD; SCHZ, schizophrenia; SD, speech delay; T, TS translocation breakpoint association; TS, Tourette syndrome; XM, XXX chromosome mosaicism.43

a

Recurrent disruption of this gene in TS.

b

Gene disruption co-segregates with disorder in TS family.

c

2p21-23 block insertion that disrupted CNTNAP2 harbours a TSAICG critical linkage region.11

d

CNTNAP2 disrupted in family without TS.53

Bold type indicates protein implicated in Tourette syndrome.