{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T14:27:09Z","timestamp":1789396029819,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,6,16]],"date-time":"2011-06-16T00:00:00Z","timestamp":1308182400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Point mutations of <jats:italic>EHMT1<\/jats:italic> or deletions and duplications of chromosome 9q34.3 are found in patients with variable neurologic and developmental disorders. Here, we present a child with congenital cataract, developmental and speech delay who developed a metastatic ganglioglioma with progression to anaplastic astrocytoma. Molecular analysis identified a novel constitutional tandem duplication in 9q34.3 with breakpoints in intron 1 of <jats:italic>TRAF2<\/jats:italic> and intron 16 of <jats:italic>EHMT1<\/jats:italic> generating a fusion transcript predicted to encode a truncated form of EHMT1. The ganglioglioma showed complex chromosomal aberrations with further duplication of the dup9q34. Thus, this unique tandem 9q34.3 duplication may impact brain tumor formation. Pediatr Blood Cancer 2012; 58: 801\u2013805. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/pbc.23219","type":"journal-article","created":{"date-parts":[[2011,6,17]],"date-time":"2011-06-17T21:20:29Z","timestamp":1308345629000},"page":"801-805","source":"Crossref","is-referenced-by-count":10,"title":["Constitutional tandem duplication of 9q34 that truncates <i>EHMT1<\/i> in a child with ganglioglioma"],"prefix":"10.1002","volume":"58","author":[{"given":"Hannah C.","family":"Cheung","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana A.","family":"Yatsenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meena","family":"Kadapakkam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Legay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon E.","family":"Plon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,6,16]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"1993","volume-title":"GeneReviews [Internet]","author":"Kleefstra T","year":"2010"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.062950"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp114"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2008.00122.x"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.336"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1069861"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279094"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028258"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-08-2097"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.04-2984fje"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.281.5383.1680"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1284005"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2008.192"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0002037"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1158\/1541-7786.MCR-08-0497"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1140321"},{"key":"e_1_2_6_18_2","first-page":"1005","article-title":"Duplication 9q34 syndrome","volume":"35","author":"Allderdice PW","year":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20602"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-4608(96)00330-5"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-2264(2000)9999:9999<::AID-GCC1049>3.0.CO;2-8"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.23219","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.23219","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T02:38:13Z","timestamp":1697596693000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.23219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,16]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1002\/pbc.23219"],"URL":"https:\/\/doi.org\/10.1002\/pbc.23219","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,6,16]]}}}