{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T01:28:06Z","timestamp":1790299686472,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,7,27]],"date-time":"2013-07-27T00:00:00Z","timestamp":1374883200000},"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":[[2013,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Tourette syndrome (TS) is a childhood onset neurodevelopmental disorder. Although it is widely accepted that genetic factors play a significant role in TS pathogenesis the etiology of this disorder is largely unknown. Identification of rare copy number variations (CNVs) as susceptibility factors in several neuropsychiatric disorders such as attention deficit\u2010hyperactivity disorder (ADHD), autism and schizophrenia, suggests involvement of these rare structural changes also in TS etiology. In a male patient with TS, ADHD, and OCD (obsessive compulsive disorder) we identified two microduplications (at 15q13.3 and Xq21.31) inherited from a mother with subclinical ADHD. The 15q duplication included the <jats:italic>CHRNA7<\/jats:italic> gene; while two genes, <jats:italic>PABPC5<\/jats:italic> and <jats:italic>PCDH11X<\/jats:italic>, were within the Xq duplication. The Xq21.31 duplication was present in three brothers with TS including the proband, but not in an unaffected brother, whereas the 15q duplication was present only in the proband and his mother. The structural variations observed in this family may contribute to the observed symptoms, but further studies are necessary to investigate the possible involvement of the described variations in the TS etiology. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32186","type":"journal-article","created":{"date-parts":[[2013,7,27]],"date-time":"2013-07-27T18:23:18Z","timestamp":1374949398000},"page":"825-831","source":"Crossref","is-referenced-by-count":27,"title":["Microduplication of 15q13.3 and Xq21.31 in a family with tourette syndrome and comorbidities"],"prefix":"10.1002","volume":"162","author":[{"given":"Linea","family":"Melchior","sequence":"first","affiliation":[{"name":"Applied Human Molecular Genetics Kennedy Center Copenhagen University Hospital Rigshospitalet Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgitte","family":"Bertelsen","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics Kennedy Center Copenhagen University Hospital Rigshospitalet Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanette Mol","family":"Debes","sequence":"additional","affiliation":[{"name":"The Tourette Clinic Department of Pediatrics Herlev University Hospital Herlev Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Groth","sequence":"additional","affiliation":[{"name":"The Tourette Clinic Department of Pediatrics Herlev University Hospital Herlev Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liselotte","family":"Skov","sequence":"additional","affiliation":[{"name":"The Tourette Clinic Department of Pediatrics Herlev University Hospital Herlev Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens D","family":"Mikkelsen","sequence":"additional","affiliation":[{"name":"Neurobiology Research Unit Copenhagen University Hospital Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Br\u00f8ndum\u2010Nielsen","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics Kennedy Center Copenhagen University Hospital Rigshospitalet Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics Kennedy Center Copenhagen University Hospital Rigshospitalet Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,27]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcp.2011.06.018"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/neu.10116"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2011.05.003"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003350010177"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2001.6530"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-003-3028-7"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12105"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2012.75"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.180067"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808316370"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2011.09.034"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30306"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.112"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.81"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2000.tb00346.x"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.292"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01925.x"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2011.10.023"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80127-2"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002521"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738060210081001"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34237"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2003-4-8-r50"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0134-0"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08494"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.009"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.059907"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0059061"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychores.2009.06.006"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2013.01.016"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-005-5320-z"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2012.06.020"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6694"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychores.2009.07.010"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2009.07.041"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.063412"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1155174"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30357"},{"key":"e_1_2_5_41_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.2011.11060822"}],"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.32186","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.32186","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:10:31Z","timestamp":1696633831000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.32186"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,27]]},"references-count":40,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1002\/ajmg.b.32186"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.32186","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,27]]}}}