Novel THAP1 sequence variants in primary dystonia
نویسندگان
چکیده
منابع مشابه
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia
Although coding variants in THAP1 have been causally associated with primary dystonia, the contribution of noncoding variants remains uncertain. Herein, we examine a previously identified Intron 1 variant (c.71+9C>A, rs200209986). Among 1672 subjects with mainly adult-onset primary dystonia, 12 harbored the variant in contrast to 1/1574 controls (P < 0.01). Dystonia classification included cerv...
متن کاملScreening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions
The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia and to characterize their phenotype. We sequenced THAP1 exons 1, 2 and 3 including exon-intron boundaries and 5'UTR fragment in 96 non-DYT1 dystonia patients. In four individuals single nucleotide variations were identified. The coding substitutions were: c. 238A>G (p.Ile80Val), found in...
متن کاملTHAP1 Mutations and Dystonia Phenotypes: Genotype Phenotype Correlations
THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in thi...
متن کاملMutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
BACKGROUND Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Amish-Mennonite families, and a different mutation was identified in another family of European descent. To assess more broadly the role of this gene, we screened for mutations in families that included one family member who had early-onset, non-focal primary dystonia...
متن کاملMutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions
Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways. Mutations in THAP1 [THAP (Thanatos-associated protein) domain containing, apoptosis associated protein 1], a ubiquitously expressed transcription factor with DNA binding and protein-inter...
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ژورنال
عنوان ژورنال: Neurology
سال: 2010
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e3181ca00ca