{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T22:16:32Z","timestamp":1789769792531,"version":"4.0.1"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,20]],"date-time":"2017-11-20T00:00:00Z","timestamp":1511136000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671362"],"award-info":[{"award-number":["81671362"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>IMMP2L<\/jats:italic>, the gene encoding the inner mitochondrial membrane peptidase subunit 2\u2010like protein, has been reported as a candidate gene for Tourette syndrome, autism spectrum disorder (ASD) and additional neurodevelopmental disorders. Here we genotyped 100 trio families with an index proband with autism spectrum disorder in Han Chinese population and found three cases with rare exonic <jats:italic>IMMP2L<\/jats:italic> deletions. We have conducted a comprehensive meta\u2010analysis to quantify the association of <jats:italic>IMMP2L<\/jats:italic> deletions with ASD using 5,568 cases and 10,279 controls. While the <jats:italic>IMMP2L<\/jats:italic> deletions carried non\u2010recurrent breakpoints, in contrast to previous reports, our meta\u2010analysis found no evidence of association (<jats:italic>P\u2009<\/jats:italic>&gt;\u20090.05) between <jats:italic>IMMP2L<\/jats:italic> deletions and ASD. We also observed common exonic deletions impacting <jats:italic>IMMP2L<\/jats:italic> in a separate control (5,971 samples) cohort where subjects were screened for psychiatric conditions. This is the first systematic review and meta\u2010analysis regarding the effect of <jats:italic>IMMP2L<\/jats:italic> deletions on ASD, but further investigations in different populations, especially Chinese population may be still needed to confirm our results.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32608","type":"journal-article","created":{"date-parts":[[2017,11,20]],"date-time":"2017-11-20T06:06:39Z","timestamp":1511157999000},"page":"93-100","source":"Crossref","is-referenced-by-count":21,"title":["Association of <i>IMMP2L<\/i> deletions with autism spectrum disorder: A trio family study and meta\u2010analysis"],"prefix":"10.1002","volume":"177","author":[{"given":"Yanqing","family":"Zhang","sequence":"first","affiliation":[{"name":"Pediatric Health Care Institute Qilu Children's Hospital of Shandong University Ji'nan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1298-492X","authenticated-orcid":false,"given":"Yi","family":"Liu","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute Qilu Children's Hospital of Shandong University Ji'nan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehdi","family":"Zarrei","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winnie","family":"Tong","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Dong","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute Qilu Children's Hospital of Shandong University Ji'nan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute Qilu Children's Hospital of Shandong University Ji'nan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute Qilu Children's Hospital of Shandong University Ji'nan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaomeng","family":"Yang","sequence":"additional","affiliation":[{"name":"Pediatric Research Institute Qilu Children's Hospital of Shandong University Ji'nan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey R.","family":"MacDonald","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Uddin","sequence":"additional","affiliation":[{"name":"Mohammed Bin Rashid University of Medicine and Health Sciences College of Medicine Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8326-1999","authenticated-orcid":false,"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Canada"},{"name":"McLaughlin Centre and Department of Molecular Genetics University of Toronto Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongtao","family":"Gai","sequence":"additional","affiliation":[{"name":"Pediatric Health Care Institute Qilu Children's Hospital of Shandong University Ji'nan China"},{"name":"Pediatric Research Institute Qilu Children's Hospital of Shandong University Ji'nan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-3-12"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.24"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt937"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12101"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1094-6"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2011.07189.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.15585\/mmwr.ss6503a1"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.153"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20631"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2009.57"},{"issue":"1","key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/1866-1955-6-34","article-title":"Copy number variation in Han Chinese individuals with autism spectrum disorder","volume":"6","author":"Gazzelone M. 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