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The genes <jats:italic>TOR1A<\/jats:italic>, <jats:italic>THAP1<\/jats:italic> and <jats:italic>GNAL<\/jats:italic> were screened using a combination of high\u2010resolution melting analysis and direct DNA resequencing. In addition, an extensive literature search to identify original articles (published before 10 August 2020) reporting mutations in <jats:italic>TOR1A<\/jats:italic>, <jats:italic>THAP1<\/jats:italic> or <jats:italic>GNAL<\/jats:italic> associated to dystonia was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Pathogenic or likely pathogenic variants in <jats:italic>TOR1A<\/jats:italic>, <jats:italic>THAP1<\/jats:italic> and <jats:italic>GNAL<\/jats:italic> were identified in 0.48%, 0.57% and 0.29% of our patients, respectively. Five patients carried the variation p.Glu303del in <jats:italic>TOR1A<\/jats:italic>. A very rare variant in <jats:italic>GNAL<\/jats:italic> (p.Ser238Asn) was found as a putative risk factor for dystonia.<\/jats:p><jats:p>In the literature, variations in <jats:italic>TOR1A<\/jats:italic>, <jats:italic>THAP1<\/jats:italic> and <jats:italic>GNAL<\/jats:italic> accounted for about 6%, 1.8% and 1.1% of published dystonia patients, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>There is a different genetic contribution to dystonia of these three genes in our patients (about 1.3% of patients) and in the literature (about 3.6% of patients), probably due the high proportion of adult\u2010onset cases in our cohort. As regards age at onset, site of dystonia onset, and final distribution, in our population there is a clear differentiation between DYT\u2010<jats:italic>TOR1A<\/jats:italic> and DYT\u2010<jats:italic>GNAL<\/jats:italic>, with DYT\u2010<jats:italic>THAP1<\/jats:italic> likely to be an intermediate phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14638","type":"journal-article","created":{"date-parts":[[2020,11,11]],"date-time":"2020-11-11T15:55:07Z","timestamp":1605110107000},"page":"1188-1197","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Mutational spectrum of <i>GNAL<\/i>, <i>THAP1<\/i> and <i>TOR1A<\/i> genes in isolated dystonia: study in a population from Spain and systematic literature 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