{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T22:20:42Z","timestamp":1789597242204,"version":"build-2803163510"},"reference-count":26,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["DNA and Cell Biology"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>\n                    To investigate the contribution of\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    variants to Tourette disorder (TD) probands in China. Whole-exome sequencing (WES) conducted on 15 child-parent trios (45 samples) detected 25 coding\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    variants, including 2\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    Likely Gene Disrupting (LGD) variants and 6 Missense3 variants. The\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    LGD variants were consistently associated with TD risk (Fisher's exact test OR 2.69;\n                    <jats:italic toggle=\"yes\">p<\/jats:italic>\n                    \u2009=\u20090.1952), although statistical significance was not achieved due to the small sample size. We then assessed the relationship between the genetic events and phenotypic data by comparing Yale Global Tic Severity Scale (YGTSS) scores. The TD probands with damaging variants (defined as LGD variants and Mis3 variants) had significantly higher YGTSS scores, suggesting more severe tic symptoms (\n                    <jats:italic toggle=\"yes\">p<\/jats:italic>\n                    \u2009=\u20090.019). We also observed a hit for a damaging compound heterozygous (CH) mutation in\n                    <jats:italic toggle=\"yes\">CELSR3<\/jats:italic>\n                    , a high-confidence TD risk gene, in one of the TD probands. To our knowledge, this is the first study to investigate\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    variants in TD in a Chinese population. Our results showed that\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    LGD variants contributed to TD risk in our cohort and that TD probands with\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    damaging variants have more severe symptoms. Furthermore, our observation of damaging CH mutations in\n                    <jats:italic toggle=\"yes\">CELSR3<\/jats:italic>\n                    in an individual affected with TD further strengthened the confidence in a role for this gene in TD etiology.\n                  <\/jats:p>","DOI":"10.1089\/dna.2019.4746","type":"journal-article","created":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T16:31:00Z","timestamp":1576773060000},"page":"63-68","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":23,"title":["A Whole-Exome Sequencing Study of Tourette Disorder in a Chinese Population"],"prefix":"10.1177","volume":"39","author":[{"given":"Xin","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Traditional Chinese Medicine, Xinhua Hospital Affiliated to Shanghai Jiatong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juanjuan","family":"Hao","sequence":"additional","affiliation":[{"name":"Department of Traditional Chinese Medicine, Xinhua Hospital Affiliated to Shanghai Jiatong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengcheng","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Traditional Chinese Medicine, Xinhua Hospital Affiliated to Shanghai Jiatong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Traditional Chinese Medicine, Xinhua Hospital Affiliated to Shanghai Jiatong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Traditional Chinese Medicine, Xinhua Hospital Affiliated to Shanghai Jiatong University School of Medicine, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,1,8]]},"reference":[{"key":"e_1_3_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_3_5_3_1","doi-asserted-by":"crossref","unstructured":"Gusfield D. and Nielsen R. (2015). Association Mapping for Compound Heterozygous Traits Using Phenotypic Distance and Integer Programming. International Workshop on Algorithms in Bioinformatics. 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