{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T23:45:56Z","timestamp":1791071156501,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,10,11]],"date-time":"2011-10-11T00:00:00Z","timestamp":1318291200000},"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":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recent studies have shown that haploinsufficiency of <jats:italic>MEF2C<\/jats:italic> causes severe intellectual disability, epilepsy, hypotonia, and cerebral malformations. We report on a female patient with severe intellectual disability, early\u2010onset epileptic encephalopathy, and hypoplastic corpus callosum, possessing a de novo balanced translocation, t(5;15)(q13.3;q26.1). The patient showed upward gazing and tonic seizure of lower extremities followed by generalized clonic seizures at 4 months of age. Electroencephalogram showed hypsarrhythmia when asleep. By using fluorescent in situ hybridization (FISH), southern hybridization and inverse PCR, the translocation breakpoints were determined at the nucleotide level. The 5q14.3 breakpoint was localized 121.5\u2010kb upstream of <jats:italic>MEF2C<\/jats:italic>. The 15q26.2 breakpoint was mapped 119\u2010kb downstream of <jats:italic>LOC91948<\/jats:italic> non\u2010coding RNA. We speculate that the translocation may disrupt the proper regulation of <jats:italic>MEF2C<\/jats:italic> expression in the developing brain, resulting in severe intellectual disability and early\u2010onset epileptic encephalopathy. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34289","type":"journal-article","created":{"date-parts":[[2011,10,11]],"date-time":"2011-10-11T20:50:51Z","timestamp":1318366251000},"page":"2879-2884","source":"Crossref","is-referenced-by-count":27,"title":["De novo 5q14.3 translocation 121.5\u2010kb upstream of <i>MEF2C<\/i> in a patient with severe intellectual disability and early\u2010onset epileptic encephalopathy"],"prefix":"10.1002","volume":"155","author":[{"given":"Hirotomo","family":"Saitsu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noboru","family":"Igarashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ippei","family":"Okada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Shimokawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyomi","family":"Nishiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Doi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Harada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoshi","family":"Hayasaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matasumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,10,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0802679105"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000336339.08878.2d"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/320609"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.90"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.7"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f6bc97"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/375538"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/518903"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069732"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0802876105"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.15-08-05727.1995"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/427564"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01413.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1002\/ajmg.b.31071","article-title":"Severe 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