{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:19:09Z","timestamp":1790680749906,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T00:00:00Z","timestamp":1387411200000},"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":[[2014,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Interstitial deletions of chromosome band 14q24.1q24.3 are apparently very rare. We report on three unrelated patients with overlapping <jats:italic>de novo<\/jats:italic> deletions of sizes 5.4, 2.8, and 2.3\u2009Mb in this region. While some clinical problems such as intestinal malrotation, cryptorchidism, and ectopic kidney were only observed in single patients, all three patients had mild intellectual disability, congenital heart defects (truncus arteriosus, pulmonary atresia, atrial septal defect, and\/or ventricular septal defect), brachydactyly, hypertelorism, broad nasal bridge, and thin upper lips. Likely haploinsufficiency of one or several of the 19 genes in the common deleted interval (<jats:italic>ACTN1<\/jats:italic>, <jats:italic>DCAF5<\/jats:italic>, <jats:italic>EXD2<\/jats:italic>, <jats:italic>GALNTL1<\/jats:italic>, <jats:italic>ERH<\/jats:italic>, <jats:italic>SLC39A9<\/jats:italic>, <jats:italic>PLEKHD1<\/jats:italic>, <jats:italic>CCDC177<\/jats:italic>, <jats:italic>KIAA0247<\/jats:italic>, <jats:italic>LOC100289511<\/jats:italic>, <jats:italic>SRSF5<\/jats:italic>, <jats:italic>SLC10A1<\/jats:italic>, <jats:italic>SMOC1<\/jats:italic>, <jats:italic>SLC8A3<\/jats:italic>, <jats:italic>ADAM21P1<\/jats:italic>, <jats:italic>COX16, SYNJ2BP<\/jats:italic>, <jats:italic>SYNJ2BP\u2010COX16<\/jats:italic>, <jats:italic>ADAM21<\/jats:italic>) was responsible for these manifestations, but apart from <jats:italic>SMOC1<\/jats:italic>, mutations in which cause autosomal recessive Waardenburg anophthalmia syndrome, and <jats:italic>ACTN1<\/jats:italic>, mutations in which are associated with congenital macrothrombocytopenia, no disease associations have so far been reported for the other genes. Functional studies and a systematic search for mutations or chromosome aberrations in this region will elucidate the role of individual genes in the clinical manifestations and will provide insight into the underlying biological mechanisms. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36321","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T20:50:53Z","timestamp":1387486253000},"page":"620-626","source":"Crossref","is-referenced-by-count":22,"title":["Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability"],"prefix":"10.1002","volume":"164","author":[{"given":"Barbara","family":"Oehl\u2010Jaschkowitz","sequence":"first","affiliation":[{"name":"Practice of Human Genetics Homburg (Saar) Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier M.","family":"Vanakker","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f6rn","family":"Menten","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Martin","sequence":"additional","affiliation":[{"name":"Practice of Human Genetics Homburg (Saar) Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Weber","sequence":"additional","affiliation":[{"name":"Practice of Human Genetics Homburg (Saar) Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Christmann","sequence":"additional","affiliation":[{"name":"Practice of Human Genetics Homburg (Saar) Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romain","family":"Krier","sequence":"additional","affiliation":[{"name":"Practice of Pediatrics Wittlich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Scheid","sequence":"additional","affiliation":[{"name":"Practice of Pediatrics Wittlich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E.","family":"McNerlan","sequence":"additional","affiliation":[{"name":"Northern Ireland Regional Genetics Service Belfast City Hospital Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shane","family":"McKee","sequence":"additional","affiliation":[{"name":"Northern Ireland Regional Genetics Service Belfast City Hospital Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.12.002"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05175"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(02)00734-9"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.01.015"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30660"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2007.06.001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.11.012"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002114"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/511134"}],"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.36321","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:11:07Z","timestamp":1696623067000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,19]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/ajmg.a.36321"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36321","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,19]]}}}