{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:03:33Z","timestamp":1777694613728,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,2,26]],"date-time":"2013-02-26T00:00:00Z","timestamp":1361836800000},"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":[[2013,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a congenital malformation that leads to severe pulmonary hypertension and respiratory failure. It has been associated with deletion of, or mutation in, <jats:italic>FOXF1<\/jats:italic> on 16q24.1, a gene encoding a forkhead transcription factor expressed in the mesenchyme of the developing lung. Here we report on the identification of a pericentric inversion on chromosome 16 (p11.2q24.1) in a case of lethal ACDMPV with atrioventricular septal defect and duodenal atresia. Array\u2010CGH indicated that the inversion is balanced, and FISH showed that the q\u2010arm breakpoint occurs 134\u2009\u00b1\u200910\u2009kb upstream (5\u2032; centromeric) of <jats:italic>FOXF1<\/jats:italic>. This is suggestive of <jats:italic>cis<\/jats:italic>\u2010regulatory elements located more than 130\u2009kb 5\u2032 of <jats:italic>FOXF1<\/jats:italic>, and analysis of genome\u2010wide data sets of chromatin modifications in two different cell types suggested that the <jats:italic>FOXF1<\/jats:italic> regulatory domain covers more than 300\u2009kb, and perhaps up to 433\u2009kb, upstream of the gene, but only 3\u2009kb downstream. The 588\u2009kb gene\u2010free region between <jats:italic>FOXF1<\/jats:italic> and the next gene in the centromeric direction, <jats:italic>IRF8<\/jats:italic>, is highly conserved between species and divided into two distinct regulatory domains by an insulator element. Another putative insulator occurs just downstream of <jats:italic>FOXF1<\/jats:italic>. Our results further strengthen the association between <jats:italic>FOXF1<\/jats:italic> and a spectrum of malformations that include ACDMPV, atrioventricular septal defects, and gastrointestinal atresia. Furthermore, the presented analysis aids in defining the critical genomic region for this syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35832","type":"journal-article","created":{"date-parts":[[2013,2,27]],"date-time":"2013-02-27T05:01:15Z","timestamp":1361941275000},"page":"764-770","source":"Crossref","is-referenced-by-count":12,"title":["Inversion upstream of <i>FOXF1<\/i> in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins"],"prefix":"10.1002","volume":"161","author":[{"given":"Toshima","family":"Parris","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali Moussavi","family":"Nik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sailesh","family":"Kotecha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Langston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalil","family":"Helou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Craig","family":"Platt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Carlsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,2,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.004432"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001046"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133632"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202658"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1416"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1190304"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0322"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M506531200"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2958.2007.05767.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513819109064753"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M808103200"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.12.2397"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.2.155"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.10426"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02252"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.06.001"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.06.081"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.05.005"}],"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.35832","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35832","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:30:13Z","timestamp":1697592613000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35832"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,26]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1002\/ajmg.a.35832"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35832","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,26]]}}}