{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:09:47Z","timestamp":1791079787492,"version":"4.1.0"},"reference-count":20,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2010,10,30]],"date-time":"2010-10-30T00:00:00Z","timestamp":1288396800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,10,30]],"date-time":"2010-10-30T00:00:00Z","timestamp":1288396800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>We identified a male patient presenting with intellectual disability and agenesis of the corpus callosum, carrying an apparently balanced, reciprocal, de novo translocation t(6;14)(q25.3;q13.2). Breakpoint mapping, using array painting, identified 2 interesting candidate genes, &lt;i&gt;ARID1B&lt;\/i&gt; and &lt;i&gt;MRPP3&lt;\/i&gt;, disrupted in the patient. Unexpectedly, the rearrangement produced 3 in-frame reciprocal fusion transcripts that were further characterized. Formation of fusion transcripts is mainly reported in acquired malignancies and is very rarely observed in patients with intellectual disability (ID) and\/or multiple congenital malformations (MCA). Additional experimental results suggest that &lt;i&gt;ARID1B&lt;\/i&gt;, a gene involved in chromatin remodeling, constitutes a good candidate for the central nervous system phenotype present in the patient.<\/jats:p>","DOI":"10.1159\/000321577","type":"journal-article","created":{"date-parts":[[2010,12,21]],"date-time":"2010-12-21T16:41:16Z","timestamp":1292949676000},"page":"135-143","source":"Crossref","is-referenced-by-count":50,"title":["A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum"],"prefix":"10.1159","volume":"132","author":[{"given":"L.","family":"Backx","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Seuntjens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Vermeesch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Van Esch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,10,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159%2F000098181"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1139%2FO07-059"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.4161%2Frna.6.3.8584"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2009.03.010"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2007.11.002"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1403"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.cell.2008.09.013"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M205961200"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1086%2F427563"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neuron.2007.06.019"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093%2Fdnares%2F4.2.141"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093%2Fdnares%2F6.5.337"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F10.8.797"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038%2Fnrn2107"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5200995"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1086%2F444549"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1369%2Fjhc.4A6436.2005"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1093%2Fnar%2Fgkh029"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1042%2FBJ20040524"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093%2Fnar%2Fgkh277"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/321577","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/321577","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:01:52Z","timestamp":1745434912000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000321577"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,30]]},"references-count":20,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2010,12,1]]},"published-print":{"date-parts":[[2010,12,22]]}},"URL":"https:\/\/doi.org\/10.1159\/000321577","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5121481","asserted-by":"subject"}]},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,30]]}}}