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Naming Genes for Dystonia: DYT-z or Ditzy? Cover

Naming Genes for Dystonia: DYT-z or Ditzy?

Open Access
|Aug 2019

Abstract

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.

DOI: https://doi.org/10.5334/tohm.525 | Journal eISSN: 2160-8288
Language: English
Submitted on: Jul 29, 2019
Accepted on: Jul 30, 2019
Published on: Aug 28, 2019
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2019 Niccolo E. Mencacci, H. A. Jinnah, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.