{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T16:55:58Z","timestamp":1775062558872,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,21]],"date-time":"2013-05-21T00:00:00Z","timestamp":1369094400000},"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":[[2013,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Deletions of the long arm of chromosome 18 have been previously reported in many patients. Most cases involve the more distal regions of the long arm (18q21.1\u2010&gt;qter). However, proximal interstitial deletions involving 18q11.2 are extremely rare. Here we report on a 14\u2010month\u2010old female with a 4.7\u2009Mb (19,667,062\u201324,401,876 hg19) de novo interstitial deletion within chromosomal band 18q11.2, which includes <jats:italic>GATA6<\/jats:italic> and 24 other RefSeq genes. The clinical features of our patient include complex congenital heart defects, a double outlet right ventricle, a subaortic ventricular septal defect, D\u2010malposed great arteries, an atrial septal defect, a dysplastic aortic valve and patent ductus arteriosus. In addition, she had renal anomalies\u2014a duplicated collecting system on the left and mild right hydronephrosis. These heart and renal defects are not reported in other patients with 18q proximal interstitial deletions. Heterozygous point mutations in <jats:italic>GATA6<\/jats:italic>, encoding for a zinc finger transcription factor, have been shown to cause congenital heart defects. Given the well\u2010established biological role of <jats:italic>GATA6<\/jats:italic> in cardiac development, a deletion of <jats:italic>GATA6<\/jats:italic> is very likely responsible for our patient's complex congenital heart defects. This is the smallest and most proximal 18q11.2 deletion involving <jats:italic>GATA6<\/jats:italic> that is associated with complex congenital heart disease and renal anomalies. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35974","type":"journal-article","created":{"date-parts":[[2013,5,21]],"date-time":"2013-05-21T20:43:14Z","timestamp":1369168994000},"page":"1773-1778","source":"Crossref","is-referenced-by-count":16,"title":["First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities"],"prefix":"10.1002","volume":"161","author":[{"given":"Peter H.","family":"Bui","sequence":"first","affiliation":[{"name":"Department of Pathology, Laboratory Medicine David Geffen School of Medicine, University of California at Los Angeles Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naghmeh","family":"Dorrani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics David Geffen School of Medicine, University of California at Los Angeles Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derek","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics David Geffen School of Medicine, University of California at Los Angeles Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory","family":"Perens","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology David Geffen School of Medicine, University of California at Los Angeles Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrina M.","family":"Dipple","sequence":"additional","affiliation":[{"name":"Department of Pediatrics David Geffen School of Medicine, University of California at Los Angeles Los Angeles California"},{"name":"Department of Human Genetics David Geffen School of Medicine, University of California at Los Angeles Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiola","family":"Quintero\u2010Rivera","sequence":"additional","affiliation":[{"name":"Department of Pathology, Laboratory Medicine David Geffen School of Medicine, University of California at Los Angeles Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,5,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.87.10.888"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32267"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1526"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31729"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31850"},{"key":"e_1_2_7_8_1","volume-title":"ISCN 2009: An international system for human cytogenetic nomenclature (2009)","author":"International Standing Committee on Human Cytogenetic Nomenclature","year":"2009"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a3a"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.105"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30727"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.8.1048"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI44555"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2011.07.037"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1035"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI27363"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.84"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181ed17e4"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2012-303328"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21743"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.12.22.3579"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9410"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-1606(02)00026-X"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2012.05.009"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2007.06.004"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02519"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10217"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30916"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-213X-7-37"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101161"}],"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.35974","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35974","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:54:07Z","timestamp":1697615647000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35974"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,21]]},"references-count":29,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["10.1002\/ajmg.a.35974"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35974","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,21]]}}}