Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
نویسندگان
چکیده
HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignement et de recherche français ou étrangers, des laboratoires publics ou privés. Singular DYT6 phenotypes in association with new THAP1 frameshift mutations Arnaud Blanchard, Agathe Roubertie, Marion Simonetta-Moreau, Vuthy Ea, Coline Coquart, Melissa Y. Frederic, Gael Gallouedec, Jean-Paul Adenis, Isabelle Benatru, Michel Borg, et al.
منابع مشابه
THAP1 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 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 کاملMutation screening of the DYT6/THAP1 gene in Italy.
Mutations in the THAP1 gene on chromosome 8p21-p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish-Mennonite families and in 12 additional probands of different ancestry. We sequenced the THAP1 gene in 158 patients with DYT1-negative PTD who had onset of symptoms below 30 years and/or positive family history. One sporadic ...
متن کاملDYT6 Dystonia: A Neuropathological Study.
BACKGROUND Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6). However, no neuropathological studies of genetically proven DYT6 cases have been previously reported. OBJECTIVE We report the first detailed neuropathological investigation carried out on two DYT6 brains. METHODS Gene...
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عنوان ژورنال:
- Movement disorders : official journal of the Movement Disorder Society
دوره 26 9 شماره
صفحات -
تاریخ انتشار 2011