{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:23:58Z","timestamp":1791275038948,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2009,7,15]],"date-time":"2009-07-15T00:00:00Z","timestamp":1247616000000},"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 A"],"published-print":{"date-parts":[[2009,8]]},"abstract":"Abstract<\/jats:title>Individuals with autism spectrum disorders have impairments in social, communicative, and behavior development that are often accompanied by abnormalities in cognitive functioning, learning, attention, and sensory processing. In this report, we describe a 3\u2010year\u2010old male child with an autism spectrum disorder who carries a 2\u2009Mb deletion of chromosome 1q42. Array comparative genome hybridization revealed that this deletion involves at least three genes\u2014DISC1<\/jats:italic>, DISC2<\/jats:italic>, and TSNAX<\/jats:italic>\u2014which have been found to be associated with neuropsychiatric disorders and are likely to play key roles in normal CNS development. Further studies revealed that the deletion was inherited from his unaffected mother. This suggests that other genetic and\/or environmental factors, some of which may be sex specific, may modify the phenotypic effects of this deletion. While this case provides evidence for the potential role of DISC1<\/jats:italic>, DISC2<\/jats:italic>, and TSNAX<\/jats:italic> in the development of autism spectrum disorders, it is equally clear that caution must be taken when providing families with prognostic information and genetic counseling regarding such deletions. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32941","type":"journal-article","created":{"date-parts":[[2009,7,17]],"date-time":"2009-07-17T16:23:22Z","timestamp":1247847802000},"page":"1758-1762","source":"Crossref","is-referenced-by-count":53,"title":["A 1q42 deletion involving DISC1<\/i>, DISC2<\/i>, and TSNAX<\/i> in an autism spectrum disorder"],"prefix":"10.1002","volume":"149A","author":[{"given":"Jaime M.","family":"Williams","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler F.","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David M.","family":"Pearson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica B.","family":"Proud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daryl A.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,7,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2008.10.120"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.62.11.1205"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.18.6419-6434.2003"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.161.4.334"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwn250"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl244"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg341"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/425586"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001235"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4002031"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.161.4.326"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagrm.2008.03.008"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1415"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1112915"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.8657"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2008.08.024"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)91520-K"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4437-05.2006"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001669"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.03042.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32941","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32941","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:23:27Z","timestamp":1697603007000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32941"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,15]]},"references-count":20,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["10.1002\/ajmg.a.32941"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32941","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,15]]}}}