Tourette syndrome

Tourette syndrome is an inherited neuropsychiatric disorder with onset in childhood, characterized by the presence of multiple physical (motor) tics and at least one vocal (phonic) tic. Tourette's is defined as part of a spectrum of tic disorders, which includes transient and chronic tics.Wikipedia

There is only one mutation known to cause Tourette syndrome: rs267606861, also known as W317X, in the HDC gene.

SNPs in the following genes have been shown in two or more studies to (slightly) influence risk for Tourette syndrome (10.3389/fnins.2016.00277):

• BTBD9
  • rs9296429
  • rs4714156
  • rs9357271 (also implicated for restless leg syndrome)
• DRD2
  • rs1800497
  • rs1079597
  • rs4648318
• HDC
  • rs854150
  • rs1894236
• IMMP2L
  • rs112636940
• SLC6A3
  • rs6347
• SLITRK1
  • rs9546538
  • rs9531520
  • rs9593835

Based on exome sequencing, in 2017 a publication reported that ~400 genes showed an excess of de novo coding mutations in association with Tourette syndrome. The gene with the highest confidence association was WWC1, and one of two mutations observed in it was rs749318706.[PMID 28472652]