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
Recurrent disruption of this gene in TS.
Gene disruption co-segregates with disorder in TS family.
2p21-23 block insertion that disrupted CNTNAP2 harbours a TSAICG critical linkage region.11
CNTNAP2 disrupted in family without TS.53
Bold type indicates protein implicated in Tourette syndrome.