Home > A. Molecular pathology > DYT1
DYT1
MIM.605204 9q34
Tuesday 29 May 2007
Torsin-A, encoded by the DYT1 gene, is a member of the AAA family of adenosine triphosphatases (ATPases), associated with diverse cellular activities.
A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers.
PAthology
germline mutations of DYT1 in
- early-onset dystonia (MIM.128100)
- myoclonic features
A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers. (17503336)
References
Risch NJ, Bressman SB, Senthil G, Ozelius LJ. Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia. Am J Hum Genet. 2007 Jun;80(6):1188-93. PMID: 17503336
Greene, P. E.; Dauer, W. : Stiff child syndrome with mutation of DYT1 gene. (Letter) Neurology 66: 1456 only, 2006. PubMed ID : 16682692
Kamm, C.; Castelon-Konkiewitz, E.; Naumann, M.; Heinen, F.; Brack, M.; Nebe, A.; Ceballos-Baumann, A.; Gasser, T. : GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov. Disord. 14: 681-683, 1999. PubMed ID : 10435508
