{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T06:53:26Z","timestamp":1750834406413,"version":"3.40.4"},"reference-count":35,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>In this study, we present a female patient with a constitutional de novo deletion in 7q21.3q31.1 as determined by G-banding and CGH-SNP arrays. She exhibited, among other features, psychomotor retardation, congenital severe bilateral glaucoma, a cleft palate, and heart defect. Microarray assay disclosed a deleted 12.5-Mb region roughly 88 kb downstream the ectrodactyly critical region; thus, the patient's final karyotype was 46,XX.arr 7q21.3q31.1(96,742,140- 109,246,085)\u00d71 dn. This girl represents the fourth patient described so far with congenital glaucoma and a deletion encompassing or overlapping the 7q21.3q31.1 region, and confirms the presence of a locus or loci related to such a clinical feature. According to our results, the proneness to ocular defects secondary to 7q intermediate deletions could be caused by co-deletion of &lt;i&gt;TAC1&lt;\/i&gt;, &lt;i&gt;HBP1&lt;\/i&gt;, and a small cluster of cytochrome P450 genes (subfamily 3A). This conclusion is supported by their functional roles and expression locations as well as because &lt;i&gt;TAC1&lt;\/i&gt; is related to the functional pathway of the &lt;i&gt;MYOC&lt;\/i&gt; gene whose mutations are linked to glaucoma. Moreover, given that this girl is clinically reminiscent of several phenotypes related to diverse deletions within 7q21q32, our results and observations offer a general overview of the gene content of deletions\/phenotypes overlapping 7q21.3q31.1 and confirm that loci distal to &lt;i&gt;DLX&lt;\/i&gt; genes including the &lt;i&gt;CUX1&lt;\/i&gt; gene and potential regulatory elements downstream from &lt;i&gt;DLX5&lt;\/i&gt; are unrelated to ectrodactyly.<\/jats:p>","DOI":"10.1159\/000353510","type":"journal-article","created":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T13:36:55Z","timestamp":1374241015000},"page":"285-291","source":"Crossref","is-referenced-by-count":7,"title":["Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma"],"prefix":"10.1159","volume":"4","author":[{"given":"L.","family":"Mart\u00ednez-Jacobo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"C\u00f3rdova-Fletes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Ortiz-L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Rivas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Saucedo-Carrasco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Rojas-Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2013,7,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.6.473"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201611"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34298"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804093381503"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32093"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.100"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000161115"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310321"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4467-10.2011"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.10.619"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/BF00394300"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01442.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb00053.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0014567"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0036301"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.151"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009040-00001"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0045077"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350118"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2004.08.017"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-94"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.004"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279044"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.4.641"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320212"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038\/ng.661"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.06-0998"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31601"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.02.003"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.72"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1097\/YPG.0b013e3282f97df7"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-7843.2011.00694.x"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2012.10.035"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170207"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1124\/dmd.108.021121"}],"container-title":["Molecular 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