{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T08:35:16Z","timestamp":1768293316757,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T00:00:00Z","timestamp":1424217600000},"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":[[2015,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Deletions or intragenic mutations involving the <jats:italic>MEF2C<\/jats:italic> gene on chromosome 5q14.3 have generally been associated with a relatively uniform phenotype characterized by severe developmental delay, absent speech, stereotypies, absent or limited gait abilities, lack of a typical facial gestalt and scarcity of major malformations. We report on a patient of Cypriot descent with a de novo, approximately 147\u2009kb in size, partial <jats:italic>MEF2C<\/jats:italic> deletion removing exons 1 to 3. He had a history of severe intellectual disability with absent speech, poor eye contact, hand stereotypies and a wide\u2010based gait. A broad\u2010based, shallow jugular pit with an overlying vascular malformation was also present. Partial <jats:italic>MEF2C<\/jats:italic> deletions have only been reported in a very small number of patients and have on occasion been associated with relatively milder phenotypes. We present a patient of Cypriot descent with such a deletion and review previously published literature on partial <jats:italic>MEF2C<\/jats:italic> gene deletions postulating a key role of the first few exons in the pathogenesis of the disease. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36945","type":"journal-article","created":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T06:39:36Z","timestamp":1424241576000},"page":"664-669","source":"Crossref","is-referenced-by-count":11,"title":["Partial <i>MEF2C<\/i> deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature"],"prefix":"10.1002","volume":"167","author":[{"given":"George A.","family":"Tanteles","sequence":"first","affiliation":[{"name":"Clinical Genetics Department The Cyprus Institute of Neurology and Genetics &amp; Archbishop Makarios III Medical Centre Nicosia Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelos","family":"Alexandrou","sequence":"additional","affiliation":[{"name":"Cytogenetics and Genomics Department The Cyprus Institute of Neurology and Genetics Nicosia Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Evangelidou","sequence":"additional","affiliation":[{"name":"Cytogenetics and Genomics Department The Cyprus Institute of Neurology and Genetics Nicosia Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Gavatha","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Archbishop Makarios III Medical Centre Nicosia Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Violetta","family":"Anastasiadou","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department The Cyprus Institute of Neurology and Genetics &amp; Archbishop Makarios III Medical Centre Nicosia Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Sismani","sequence":"additional","affiliation":[{"name":"Cytogenetics and Genomics Department The Cyprus Institute of Neurology and Genetics Nicosia Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32833dc589"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0344-7"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34059"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.120.5.1251"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.90"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36020"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.08.044"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-328X(01)00187-5"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01861.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069732"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.4.1546"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.22.4565"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.15-08-05727.1995"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34177"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01413.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31071"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0356-y"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.008367"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1995.0001l.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34012"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.18.8264-8275.2004"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21253"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000337496"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36945","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36945","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36945","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:48:23Z","timestamp":1696618103000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36945"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,18]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1002\/ajmg.a.36945"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36945","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,18]]}}}