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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Ubiquity Press
2019-08-01
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| Series: | Tremor and Other Hyperkinetic Movements |
| Subjects: | |
| Online Access: | https://tremorjournal.org/index.php/tremor/article/view/710/2386 |
| _version_ | 1818418069462056960 |
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| author | Niccolo E. Mencacci H. A. Jinnah |
| author_facet | Niccolo E. Mencacci H. A. Jinnah |
| author_sort | Niccolo E. Mencacci |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T12:16:49Z |
| format | Article |
| id | doaj.art-ef8019a107bc4f80809b573088937f36 |
| institution | Directory Open Access Journal |
| issn | 2160-8288 |
| language | English |
| last_indexed | 2024-12-14T12:16:49Z |
| publishDate | 2019-08-01 |
| publisher | Ubiquity Press |
| record_format | Article |
| series | Tremor and Other Hyperkinetic Movements |
| spelling | doaj.art-ef8019a107bc4f80809b573088937f362022-12-21T23:01:37ZengUbiquity PressTremor and Other Hyperkinetic Movements2160-82882019-08-01901610.7916/tohm.v0.710710Naming Genes for Dystonia: DYT-z or Ditzy?Niccolo E. Mencacci0H. A. Jinnah1Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USADepartments of Neurology, Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USADystonias 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.https://tremorjournal.org/index.php/tremor/article/view/710/2386Dystonianomenclaturegenelocusmutationgenetic variant |
| spellingShingle | Niccolo E. Mencacci H. A. Jinnah Naming Genes for Dystonia: DYT-z or Ditzy? Tremor and Other Hyperkinetic Movements Dystonia nomenclature gene locus mutation genetic variant |
| title | Naming Genes for Dystonia: DYT-z or Ditzy? |
| title_full | Naming Genes for Dystonia: DYT-z or Ditzy? |
| title_fullStr | Naming Genes for Dystonia: DYT-z or Ditzy? |
| title_full_unstemmed | Naming Genes for Dystonia: DYT-z or Ditzy? |
| title_short | Naming Genes for Dystonia: DYT-z or Ditzy? |
| title_sort | naming genes for dystonia dyt z or ditzy |
| topic | Dystonia nomenclature gene locus mutation genetic variant |
| url | https://tremorjournal.org/index.php/tremor/article/view/710/2386 |
| work_keys_str_mv | AT niccoloemencacci naminggenesfordystoniadytzorditzy AT hajinnah naminggenesfordystoniadytzorditzy |