l-Histidine Decarboxylase Gene Mutation in Tourette Syndrome

Identification of a mutation in the L-histidine decarboxylase gene in a single, multigenerational family with Tourette syndrome may implicate the histaminergic system in TS pathogenesis.

Tourette syndrome (TS) is a highly heritable neurodevelopmental disorder whose pathogenesis is still poorly understood. Despite the existence of many large, multigenerational TS pedigrees and more than 20 years of genetics research, no definitive TS susceptibility genes have yet been identified. Now, researchers report a mutation in the gene for l-histidine decarboxylase (HDC), the rate-limiting enzyme in histamine biosynthesis, in nine affected individuals in a single, multigenerational TS pedigree.

The authors performed linkage analysis in this family, with follow-up sequencing of 51 genes in the identified chromosomal region, and identified a truncating mutation, W317X, in the gene for HDC that was not present in 720 additional TS patient…

Reviewing Author

Jeremiah M. Scharf, MD, PhD