Naming Genes for Dystonia: DYT-z or Ditzy?

Dystonias are a clinically and etiologically diverse group of disorders. Numerous genes have now been associated with different dystonia syndromes, and multiple strategies have been proposed for how these genes should be lumped and split into meaningful categories. The traditional approach has been based on the Human Genome Organization's plan for naming genetic loci for all disorders. For dystonia this involves a DYT prefix followed by a number (e.g., DYT1, DYT2, DYT3, etc.). A more recently proposed approach involves assigning multiple prefixes according to the main elements of the phenotype (e.g., DYT, PARK, CHOR, TREM, etc.) followed by the name of the responsible gene. This article describes these nomenclature systems and summarizes some of their limitations. We focus on dystonia as an example, although the concepts may be applied to all movement disorders.
Competing Interests: Funding: This work was supported in part by the Dystonia Coalition, which is part of the NIH Rare Diseases Clinical Research Network. Funding and/or programmatic support for this project has been provided by the National Institute of Neurological Disorders and Stroke and NIH Office of Rare Diseases Research in the National Center for Advancing Translational Sciences at the NIH through grants NS065701, TR001456, and NS116025. Conflict of Interest: The authors report no conflict of interest. Ethics Statement: Not applicable for this category of article.