{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T23:45:59Z","timestamp":1791071159417,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T00:00:00Z","timestamp":1390435200000},"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":[[2014,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>The autism susceptibility candidate 2 (<jats:italic>AUTS2<\/jats:italic>) gene is suggested to play a critical role in early brain development, and its association with intellectual disability (ID), autism spectrum disorders, and other neurodevelopmental disorders (NDDs) has recently gained more attention. Genomic rearrangements and copy number variations (CNVs) involving <jats:italic>AUTS2<\/jats:italic> have been implicated in a range of NDDs with or without congenital malformations and dysmorphic features. Here we report a 62\u2009kb de novo deletion encompassing exon 6 of <jats:italic>AUTS2<\/jats:italic> detected by chromosomal microarray analysis (CMA) in a 4.5 year\u2010old female patient with severe speech and language disorder, history of tonic\u2013clonic movements, and pes planus with eversion of the feet. This is one of the smallest de novo intragenic deletions of <jats:italic>AUTS2<\/jats:italic> described in patients with NDDs. We reviewed previously reported small pathogenic CNVs (&lt;300\u2009kb) in 19 cases, and correlated their specific locations within <jats:italic>AUTS2<\/jats:italic> as well as presence of enhancers, regulatory elements, and CpG islands with the clinical findings of these cases and our patient. Our report provides additional insight into the clinical spectrum of <jats:italic>AUTS2<\/jats:italic> disruptions. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36393","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T23:40:49Z","timestamp":1390520449000},"page":"958-965","source":"Crossref","is-referenced-by-count":49,"title":["De novo single exon deletion of <i>AUTS2<\/i> in a patient with speech and language disorder: A review of disrupted <i>AUTS2<\/i> and further evidence for its role in neurodevelopmental disorders"],"prefix":"10.1002","volume":"164","author":[{"given":"Ina E.","family":"Amarillo","sequence":"first","affiliation":[{"name":"Departments of Pathology and Laboratory Medicine David Geffen School of Medicine, University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhui Laura","family":"Li","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Laboratory Medicine David Geffen School of Medicine, University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinmin","family":"Li","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Laboratory Medicine David Geffen School of Medicine, University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Vilain","sequence":"additional","affiliation":[{"name":"Department of Human Genetics and Pediatrics David Geffen School of Medicine, University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sibel","family":"Kantarci","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Laboratory Medicine David Geffen School of Medicine, University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,1,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1109272108"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.017"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gep.2009.11.005"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr283"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.011"},{"key":"e_1_2_7_7_1","first-page":"549","article-title":"Autism and mental retardation associated with (7;20) balanced chromosomal translocation in a pair of female twins","volume":"57","author":"de la Barra F","year":"1986","journal-title":"Rev Chil Pediatr"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2009.57"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(87)90689-9"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002334"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1188021"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33497"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1416"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35922"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0284-0"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000962"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.157"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003221"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05295"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa052773"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6810"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.03.028"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2006-7-s1-s12"},{"key":"e_1_2_7_26_1","first-page":"1","article-title":"Tourette Syndrome Association International Consortium for G. 2003. 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