DYT27: Dystonia 27
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
DYT27: Dystonia 27. This is caused by mutations in the COL6A3 gene on chromosome 2. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the COL6A3 gene on chromosome 2
- The transmission is autosomal recessive
- The onset is in the first two decades
Clinical features
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References
- Zech M, Lam DD, Francescatto L, et al. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am J Hum Genet 2015; 96:883-893.
- Jochim A, Zech M, Gora-Stahlberg G, Winkelmann J, Haslinger B. The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). Mov Disord 2016; 31:747-750.
Related checklists
- DYT15: Myoclonic dystonia 15
- DYT16: Autosomal recessive dystonia-parkinsonism
- DYT17: Early onset autosomal recessive dystonia
- DYT18: Paroxysmal exercise-induced dyskinesia (PED)
- DYT19: Paroxysmal kinesigenic dyskinesia 2 (PKD2)
- DYT20: Paroxysmal non-kinesigenic dyskinesia 2 (PNKD2)
- DYT21: Late onset dystonia
- DYT22: Dystonia 22
- DYT23: Dystonia 23
- DYT24: Dystonia 24
- DYT25: Cervical dystonia with local spread
- DYT26: Myoclonic dystonia 26
- DYT28: Dystonia 28
- DYT29: Dystonia 29
- DYT30: Dystonia 30
- DYT31: Dystonia 31
- DYT32: Dystonia 32
- DYT33: Dystonia 33
- DYT34: Dystonia 34
- DYT35: Dystonia 35
