{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T07:30:41Z","timestamp":1787729441097,"version":"build-2784847793"},"reference-count":37,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T00:00:00Z","timestamp":1395619200000},"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":[[2014,6]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Holt\u2013Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by upper limb defects and congenital heart defects (CHD), which are often simple septal and conduction defects, less frequently complex CHDs. We report on a 9 year\u2010old boy with clinical and radiologic features of HOS consisting of bilateral asymmetric hypoplastic thumbs, generalized brachydactyly, limited supination due to radioulnar synostosis, and sloping shoulders, and intermediate atrioventricular canal defect (AVCD) with aortic coarctation. A de novo, previously described mutation, (Arg279ter) was identified in the\n                      <jats:italic>TBX5<\/jats:italic>\n                      gene. Molecular characterization of this mutation was carried out due to the atypical CHD. In order to investigate whether the mutated transcript of\n                      <jats:italic>TBX5<\/jats:italic>\n                      was able to escape the post\u2010transcriptional surveillance mechanism and to produce a truncated TBX5 protein, we analyzed the TBX5 transcript, and protein pattern in HOS, and WT cardiac tissues. Our results demonstrate that the mutant TBX5 transcript is cleared by the cellular mechanism of surveillance. This data provides some support for the hypothesis that a dominant negative mutation, which strongly impairs the WT allele, might be too hazardous to be maintained. The literature suggests that HOS is relatively common among syndromes associated with AVCD. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36459","type":"journal-article","created":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T23:23:57Z","timestamp":1395703437000},"page":"1419-1424","source":"Crossref","is-referenced-by-count":23,"title":["Holt\u2013Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo\n                    <i>TBX5<\/i>\n                    mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Anwar","family":"Baban","sequence":"first","affiliation":[{"name":"Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Letizia","family":"Pitto","sequence":"additional","affiliation":[{"name":"CNR Institute of Clinical Physiology Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Pulignani","sequence":"additional","affiliation":[{"name":"CNR Institute of Clinical Physiology Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Cresci","sequence":"additional","affiliation":[{"name":"CNR Institute of Clinical Physiology Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Mariani","sequence":"additional","affiliation":[{"name":"CNR Institute of Clinical Physiology Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Gambacciani","sequence":"additional","affiliation":[{"name":"CNR Institute of Clinical Physiology Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Pongiglione","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Albanese","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology and Cardiac Surgery Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,3,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199403313301302"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-30"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.6.2919"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03374.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvq178"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/376436"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/376436"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1999.9298"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00493-7"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.10.785"},{"key":"e_1_2_7_12_1","first-page":"683","article-title":"Complete endocardial cushion defect and bone malformations of the hands. 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