{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T06:02:41Z","timestamp":1759730561470},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,11,16]],"date-time":"2011-11-16T00:00:00Z","timestamp":1321401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tourette Syndrome (TS) is a complex neuropsychiatric disorder characterized by vocal and motor tics. While environmental causes have been proposed to play a role, genetic factors are believed to be the main determinants of the disorder and its clinical manifestations. Recently, a heterozygous W317X mutation in the histidine decarboxylase gene (<jats:italic>HDC<\/jats:italic>) was reported to be responsible for TS in a two\u2010generation pedigree. To investigate whether the <jats:italic>HDC<\/jats:italic> gene play a role in TS in Chinese Han population, we performed genetic analysis of the coding region of the <jats:italic>HDC<\/jats:italic> gene in 100 Chinese Han patients with TS. Three variants were found including a C\u2009&gt;\u2009T transition (IVS1\u2009+\u200952C\u2009&gt;\u2009T), a novel C\u2009&gt;\u2009A transition (c.426C\u2009&gt;\u2009A) in exon 4, and a novel G\u2009&gt;\u2009A transition (c.1743G\u2009&gt;\u2009A) in exon 12, both predicted with no amino acid change. Extended analysis was conducted in a total of 120 TS patients and 240 sex, age, and ethnicity matched healthy controls. No significant differences in genotypic and allele distribution between patients and controls for these three variants (<jats:italic>P<\/jats:italic>\u2009=\u20090.274, <jats:italic>P<\/jats:italic>\u2009=\u20091.000 and <jats:italic>P<\/jats:italic>\u2009=\u20090.632 for genotypic distribution, respectively; <jats:italic>P<\/jats:italic>\u2009=\u20090.143, <jats:italic>P<\/jats:italic>\u2009=\u20091.000 and <jats:italic>P<\/jats:italic>\u2009=\u20090.582 for allele distribution, respectively) were observed, suggesting variants in the <jats:italic>HDC<\/jats:italic> gene may play little or no role in TS susceptibility in Chinese Han population. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.32003","type":"journal-article","created":{"date-parts":[[2011,11,17]],"date-time":"2011-11-17T08:01:44Z","timestamp":1321516904000},"page":"72-76","source":"Crossref","is-referenced-by-count":36,"title":["Mutation screening of the <i>HDC<\/i> gene in Chinese Han patients with Tourette syndrome"],"prefix":"10.1002","volume":"159B","author":[{"given":"Jing","family":"Lei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiong","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linyan","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongbo","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xian","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,11,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890423349"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1116502"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970221)74:1<58::AID-AJMG13>3.0.CO;2-Q"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201824"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-3223(94)00161-U"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960531)67:3<264::AID-AJMG4>3.0.CO;2-N"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/YPG.0b013e32833511ce"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2005.00383.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2006.00706.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.01.061"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9568.2004.03546.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0907006"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00787-007-1003-7"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2011.05.245"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.23.13316"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0893-133X(01)00428-6"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2007.02.015"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138239"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2002.01189.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5202006"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/303093"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)00696-X"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/319523"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.1985.01790310077011"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2009.213"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychores.2009.07.010"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.2121"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.14.2627"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22398"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.03.006"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(03)00097-1"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(03)90005-2"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1097\/YPG.0b013e3283060f6f"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.32003","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.32003","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.b.32003","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.32003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:44:39Z","timestamp":1694745879000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.32003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,16]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1002\/ajmg.b.32003"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.32003","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,16]]}}}