Dystonia 6, torsion
| Disorder | |
|---|---|
| OMIM #: | #602629 (Click to access OMIM database) |
| Disorder: | Dystonia 6, torsion |
| Also known as: | DYT6 TORSION DYSTONIA, ADULT-ONSET, MIXED TYPE |
| Clinical | |
| Phenotype: | Symptoms are late onset (mean age 19), torsion dystonia presenting in limb, cervical, cranial and facial muscles, torticollis |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish, Unknown / Other Mennonite | |
| Gene: | THAP1 |
| Base Change: | c.135_139delinsGGGTTTA |
| Amino Acid Change: | p.Phe45Leufs*29 |
| Last updated: | 2023-02-01 |
| 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 |
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