Navegando por Palavras-chave "de novo mutation"

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    Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a de Novo TOR1A GAG Deletion
    (Wiley-Blackwell, 2010-12-15) Aguiar, Patricia de Carvalho [UNIFESP]; Fuchs, Tania; Borges, Vanderci [UNIFESP]; Lamar, Kay-Marie; Azevedo Silva, Sonia Maria [UNIFESP]; Ferraz, Henrique Ballalai [UNIFESP]; Ozelius, Laurie; Universidade Federal de São Paulo (UNIFESP); Inst Israelita Ensino & Pesquisa Albert Einstein; Mt Sinai Sch Med
    The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. (C) 2010 Movement Disorder Society