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repeat expansion screening was also conducted to evaluate potential repeat\u2010expansion phenocopies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The overall diagnostic yield was 33.3%, with significantly higher rates in generalized and childhood\u2010onset dystonia patients. We expanded the mutational and phenotypic spectra of established dystonia genes, including\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      ,\n                      <jats:italic>KMT2B<\/jats:italic>\n                      ,\n                      <jats:italic>GCH1<\/jats:italic>\n                      , and\n                      <jats:italic>TOR1A<\/jats:italic>\n                      . Repeat expansion screening identified\n                      <jats:italic>ATXN8OS<\/jats:italic>\n                      and\n                      <jats:italic>TBP<\/jats:italic>\n                      expansions of uncertain clinical significance. Notably, two heterozygous\n                      <jats:italic>FIG4<\/jats:italic>\n                      variants (c.1038_1039del and c.2181\u20102A&gt;G) were identified as candidate findings requiring further validation. Exploratory HEK\u2010293\u2009T cell analyses showed that the frameshift variant produced a truncated protein and was associated with lysosome\u2010related cellular alterations and reduced cell viability.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study delineates the genetic architecture and genotype\u2013phenotype spectrum of dystonia in a Chinese cohort, providing population\u2010specific evidence for the molecular classification and genetic evaluation of dystonia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cns.71203","type":"journal-article","created":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T04:16:16Z","timestamp":1791778576000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Whole\u2010Exome Sequencing Reveals the Genetic Landscape and Genotype\u2013Phenotype Spectrum of Dystonia in a Chinese Cohort"],"prefix":"10.1002","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1636-1789","authenticated-orcid":false,"given":"Yiqing","family":"Gong","sequence":"first","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huirong","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan China"},{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South University  Changsha Hunan China"},{"name":"Bioinformatics Center and National Clinical Research Center 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