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Herein, we report the identification a novel homozygous missense mutation, c.156 C\u2009&gt;\u2009A in <jats:italic>VPS16<\/jats:italic>, co-segregating with disease status in a Chinese consanguineous family with adolescent-onset primary dystonia by whole exome sequencing and homozygosity mapping. To assess the biological role of c.156 C\u2009&gt;\u2009A homozygous mutation of <jats:italic>VPS16<\/jats:italic>, we generated mice with targeted mutation site of <jats:italic>Vps16<\/jats:italic> through CRISPR-Cas9 genome-editing approach. <jats:italic>Vps16<\/jats:italic> c.156 C\u2009&gt;\u2009A homozygous mutant mice exhibited significantly impaired motor function, suggesting that <jats:italic>VPS16<\/jats:italic> is a new causative gene for adolescent-onset primary dystonia.<\/jats:p>","DOI":"10.1038\/srep25834","type":"journal-article","created":{"date-parts":[[2016,5,12]],"date-time":"2016-05-12T10:20:07Z","timestamp":1463048407000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia"],"prefix":"10.1038","volume":"6","author":[{"given":"Xiaodong","family":"Cai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Song","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenlan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiejun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doudou","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sijie","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mali","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zongyang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiming","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiping","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,5,12]]},"reference":[{"key":"BFsrep25834_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1212\/WNL.50.5_Suppl_5.S1","volume":"50","author":"S Fahn","year":"1988","unstructured":"Fahn, S. 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