{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T22:04:27Z","timestamp":1762898667050},"reference-count":38,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2011,2,25]],"date-time":"2011-02-25T00:00:00Z","timestamp":1298592000000},"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":[[2011,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Microdeletions of <jats:italic>PARK2<\/jats:italic> have been reported previously in seven patients with autism spectrum disorder. There are no reports of <jats:italic>PARK2<\/jats:italic> microduplications in this population. Presented are two patients, one with deletion and the other with duplication, both with autism spectrum disorder, though their syndromic phenotypes vary. The deletion patient is cognitively normal and ectomorphic: the duplication patient is cognitively impaired, underweight and short. Further, the microduplication patient has demonstrated adverse medication reactions to psychotropic medications active in the dopamine metabolic pathway: cyclopentolate, lisdexamfetamine, methylphenidate. These patients support an association between <jats:italic>PARK2<\/jats:italic> mutations and autism spectrum disorder and suggest that duplications may be equally causative. It is hypothesized that the disparate patient phenotypes may represent a deletion\/duplication syndrome and that the adverse medication reactions may be a pharmacogenetic phenomenon. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.31176","type":"journal-article","created":{"date-parts":[[2011,2,26]],"date-time":"2011-02-26T16:07:54Z","timestamp":1298736474000},"page":"413-420","source":"Crossref","is-referenced-by-count":45,"title":["<i>PARK2<\/i> copy number aberrations in two children presenting with autism spectrum disorder: Further support of an association and possible evidence for a new microdeletion\/microduplication syndrome"],"prefix":"10.1002","volume":"156","author":[{"given":"Angela","family":"Scheuerle","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,2,25]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"Alcon Laboratories.2004.Cyclogyl\u2014Cyclopentolate hydrochloride solution\u2014Package insert. Revised February 2004."},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2001.5490"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33202"},{"key":"e_1_2_7_5_1","volume-title":"The AGT cytogenetics laboratory manual","author":"Barch M","year":"1997"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31020"},{"key":"e_1_2_7_7_1","volume-title":"GeneReviews [Internet]","author":"Brice A","year":"2007"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2010.09.004"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07458"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1981"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2010.1706"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07953"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.16.1649"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200011)48:5<737::AID-ANA7>3.0.CO;2-D"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00407-X"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00583-X"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh180"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f4d832"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg142"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/33416"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.051854"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/505653"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0401832101"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200005253422103"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/archgenpsychiatry.2009.137"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-200404090-00003"},{"key":"e_1_2_7_27_1","unstructured":"Ortho\u2010McNeil\u2010Janssen Pharmaceuticals.2010.Concerta\u2014Methylphenidate hydrochloride\u2014Package insert. Revised January 2010."},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000161872.85903.8E"},{"key":"e_1_2_7_29_1","volume-title":"GeneReviews [Internet]","author":"Pankratz ND"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05329"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp327"},{"key":"e_1_2_7_32_1","first-page":"138","volume-title":"ISCN 2009: An international system for human cytogenetic nomenclature","author":"Shaffer LG","year":"2009"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/77060"},{"key":"e_1_2_7_34_1","doi-asserted-by":"crossref","unstructured":"Shire LLC and New River Pharmaceuticals.2007.Vyvanse \u2010 lisdexamfetamine dimesylate\u2014Package insert. Revised 02\/07.","DOI":"10.3833\/pdr.v2007i82.356"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.3_Part_1.437"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.4.467"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08490"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(02)01376-1"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq031"}],"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.31176","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.31176","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,20]],"date-time":"2023-11-20T14:45:15Z","timestamp":1700491515000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.31176"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,25]]},"references-count":38,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,6]]}},"alternative-id":["10.1002\/ajmg.b.31176"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.31176","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,25]]}}}