Amish, Mennonite, and Hutterite
Genetic Disorder Database

Dystonia 6, torsion (DYT6)

Disorder
OMIM #: #602629  (Click to access OMIM database)
Disorder: Dystonia 6, torsion (DYT6) 
Also known as: TORSION DYSTONIA, ADULT-ONSET, MIXED TYPE 
Clinical
Phenotype: Symptoms are late onset (mean age=18.9) dystonia presenting in limb, cervical or cranial muscles 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish, Unknown / Other Mennonite  
Gene: THAP1
Base Change: c.135_139delTAAACinsGGGTTTA
Amino Acid Change: Phe45fs73X
Last updated: 2018-08-30 

References
Almasy L, Bressman S, Raymond D, Kramer P, Greene P, Heiman G, Ford B, Yount J, de Leon D, Chouinard S, Saunders-Pullman R, Brin M, Kapoor R, Jones A, Shen H, Fahn S, Risch N, and Nygaard T. (1997) Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Annals of Neurology 42(4): 670-673.
PubMed ID: 9382482 
Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ. (2009) Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet Mar;41(3):286-8.
PubMed ID: 19182804 
Saunders-Pullman R, Raymond D, Senthil G, Kramer P, Ohmann E, Deligtisch A, Shanker V, Greene P, Tabamo R, Huang N, Tagliati M, Kavanagh P, Soto-Valencia J, de Carvalho Aguiar P, Risch N, Ozelius L, Bressman S. (2007) Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. Am J Med Genet A Sep 15;143A(18):2098-105.
PubMed ID: 17702011 

Back