{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T09:43:27Z","timestamp":1785577407748,"version":"3.56.0"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,1,9]],"date-time":"2019-01-09T00:00:00Z","timestamp":1546992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000405","name":"Kids Kidney Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000405","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000871","name":"Newlife \u2013 The Charity for Disabled Children","doi-asserted-by":"publisher","award":["15\u201016\/06"],"award-info":[{"award-number":["15\u201016\/06"]}],"id":[{"id":"10.13039\/501100000871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001320","name":"Wolfson Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001320","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>The bladder exstrophy\u2013epispadias complex (BEEC) comprises of a spectrum of anterior midline defects, all affecting the lower urinary tract, the external genitalia, and the bony pelvis. In extreme cases, the gastrointestinal tract is also affected. The pathogenesis of BEEC is unclear but chromosomal aberrations have been reported. In particular, duplications of 22q11.2 have been identified in eight unrelated individuals with BEEC. The current study aimed to identify chromosomal copy number variants in BEEC. Analyses was performed using the Affymetrix Genome\u2010wide SNP6.0 assay in 92 unrelated patients cared for by two UK pediatric urology centers. Three individuals had a 22q11.2 duplication, a significantly higher number than that found in a control group of 12,500 individuals with developmental delay who had undergone microarray testing (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.0001). Sequencing of <jats:italic>CRKL<\/jats:italic>, implicated in renal tract malformations in DiGeorge syndrome critical region at 22q11, in 89 individuals with BEEC lacking 22q11 duplications revealed no pathogenic variants. To date, 22q11.2 duplication is the genetic variant most commonly associated with BEEC. This is consistent with the hypothesis that altered expression of a single, yet to be defined, gene therein is critical to the pathogenesis of this potentially devastating congenital disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.61032","type":"journal-article","created":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T06:16:36Z","timestamp":1547100996000},"page":"404-409","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["22q11.2 duplications in a UK cohort with bladder exstrophy\u2013epispadias complex"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6098-9995","authenticated-orcid":false,"given":"Glenda M.","family":"Beaman","sequence":"first","affiliation":[{"name":"Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester  Manchester United Kingdom"},{"name":"Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust  Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5541-1358","authenticated-orcid":false,"given":"Adrian S.","family":"Woolf","sequence":"additional","affiliation":[{"name":"Division of Cell Matrix Biology &amp; Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester  Manchester United Kingdom"},{"name":"Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust  Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raimondo M.","family":"Cervellione","sequence":"additional","affiliation":[{"name":"Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust  Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Keene","sequence":"additional","affiliation":[{"name":"Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust  Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imran","family":"Mushtaq","sequence":"additional","affiliation":[{"name":"Department of Paediatric Urology Great Ormond Street Hospital for Children NHS Foundation Trust  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill E.","family":"Urquhart","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust  Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen M.","family":"Stuart","sequence":"additional","affiliation":[{"name":"Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester  Manchester United Kingdom"},{"name":"Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust  Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Newman","sequence":"additional","affiliation":[{"name":"Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester  Manchester United Kingdom"},{"name":"Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust  Manchester United Kingdom"},{"name":"Peking University Health Sciences Center  Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,1,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2005.01.002"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2015.03.023"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3092"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.909"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23249"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.12.005"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1157"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30317"},{"key":"e_1_2_7_10_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Firth H. 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