{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T17:51:09Z","timestamp":1785606669820,"version":"3.56.0"},"reference-count":34,"publisher":"Portland Press Ltd.","issue":"12","license":[{"start":{"date-parts":[[2020,12,8]],"date-time":"2020-12-08T00:00:00Z","timestamp":1607385600000},"content-version":"vor","delay-in-days":7,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Aim: To conduct the clinical, genetic, and molecular characterization of 494 Han Chinese subjects with tic disorders (TD).<\/jats:p>\n               <jats:p>Methods: In the present study, we performed the mutational analysis of 22 mitochondrial tRNA genes in a large cohort of 494 Han Chinese subjects with TD via Sanger sequencing. These variants were then assessed for their pathogenic potential via phylogenetic, functional, and structural analyses.<\/jats:p>\n               <jats:p>Results: A total of 73 tRNA gene variants (49 known and 24 novel) on 22 tRNA genes were identified. Among these, 18 tRNA variants that were absent or present in &amp;lt;1% of 485 Chinese control patient samples were localized to highly conserved nucleotides, or changed the modified nucleotides, and had the potential structural to alter tRNA structure and function. These variants were thus considered to be TD-associated mutations. In total, 25 subjects carried one of these 18 putative TD-associated tRNA variants with the total prevalence of 4.96%.<\/jats:p>\n               <jats:p>Limitations: The phenotypic variability and incomplete penetrance of tic disorders in pedigrees carrying these tRNA mutations suggested the involvement of modifier factors, such as nuclear encoded genes associated mitochondrion, mitochondrial haplotypes, epigenetic, and environmental factors.<\/jats:p>\n               <jats:p>Conclusion: Our data provide the evidence that mitochondrial tRNA mutations are the important causes of tic disorders among Chinese population. These findings also advance current understanding regarding the clinical relevance of tRNA mutations, and will guide future studies aimed at elucidating the pathophysiology of maternal tic disorders.<\/jats:p>","DOI":"10.1042\/bsr20201856","type":"journal-article","created":{"date-parts":[[2020,12,9]],"date-time":"2020-12-09T21:59:55Z","timestamp":1607551195000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Mitochondrial tRNA mutations in Chinese children with tic disorders"],"prefix":"10.1042","volume":"40","author":[{"given":"Peifang","family":"Jiang","sequence":"first","affiliation":[{"name":"Department of Neurology, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinjie","family":"Ling","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China"},{"name":"Department of Pediatrics, First People\u2019s Hospital of Huzhou, Huzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Critical Care Medicine, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoying","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yilin","family":"Tao","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feilong","family":"Meng","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Zhejiang, China"},{"name":"Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weixin","family":"Cheng","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3924-7006","authenticated-orcid":false,"given":"Yanchun","family":"Ji","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Zhejiang, China"},{"name":"Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2020,12,22]]},"reference":[{"key":"2021111620351274600_B1","doi-asserted-by":"publisher","first-page":"1461","DOI":"10.1016\/bs.irn.2017.05.006","article-title":"Tourette Syndrome and Chronic Tic Disorders: The Clinical Spectrum Beyond Tics","volume":"134","author":"Martino","year":"2017","journal-title":"Int. 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