Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited
作者： Valerija Dobričić , Nikola Kresojević , Milena Žarković , Aleksandra Tomić , Ana Marjanović
DOI: 10.1016/J.PARKRELDIS.2015.08.001
关键词: Exon 、 Phenotype 、 Mutation 、 Biology 、 Genetics 、 Genotype 、 Dystonia 、 Dystonic disorder 、 Cervical dystonia 、 Genetic testing
摘要: Abstract Background In addition to the most frequent TOR1A/DYT1 mutation (c.907_909delGAG), a growing number of TOR1A sequence variants are found in dystonia patients. For most, functional characterization has demonstrated pathogenicity at different levels, implying that genetic testing should not be limited screening for c.907_909delGAG. Methods We tested 461 Serbian patients with isolated or combined changes gene and performed systematic literature review clinical characteristics carrying mutations other than Results One likely pathogenic (c.385G>A, p.Val129Ile) was detected an adult-onset cervical patient. This change is proximity previously reported p.Glu121Lys predicted decrease stability TOR1A-encoded protein TorsinA. Conclusions Our patient three carriers non-c.907_909delGAG-mutations within first exons showed similar phenotypes focal segmental dystonia. observation raises possibility genotype–phenotype correlations DYT1 indicates spectrum this type might broader then previous classic descriptions.
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