{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:19:58Z","timestamp":1777803598160,"version":"3.51.4"},"reference-count":8,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2012,5,7]],"date-time":"2012-05-07T00:00:00Z","timestamp":1336348800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:p>Angelman syndrome is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, seizures, microcephaly, and severe speech delay. It may be caused by deletion of chromosome region 15q11.2 of the maternally inherited chromosome, mutations in the UBE3A gene, uniparental disomy, or imprinting defects. Most patients with this diagnosis have a severe phenotype, and a few have a mild form of the disease. We report a patient with a novel mutation in the UBE3A gene that consists of a deletion of the termination codon (c.2556-*+6del GTAAAACAAA) and results in an elongated protein E3 ubiquitin\u2013protein ligase. Our patient has a mild phenotype compared with other patients in general and specifically to patients with UBE3A mutations. He has mild developmental delay, moderate speech delay, and no seizures. Recognition of this genotype\u2013phenotype correlation will allow better genetic counseling to other patients with similar stop codon mutations.<\/jats:p>","DOI":"10.1177\/0883073812443591","type":"journal-article","created":{"date-parts":[[2012,5,8]],"date-time":"2012-05-08T01:34:28Z","timestamp":1336440868000},"page":"392-395","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Angelman Syndrome Due to a Termination Codon Mutation of the\n                    <i>UBE3A<\/i>\n                    Gene"],"prefix":"10.1177","volume":"28","author":[{"given":"Almundher","family":"Al-Maawali","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerry","family":"Machado","sequence":"additional","affiliation":[{"name":"Division of Pediatric Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Fang","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratories, Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX. USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Dupuis","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannaneh","family":"Faghfoury","sequence":"additional","affiliation":[{"name":"The Fred A Litwin and Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Mendoza-Londono","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,5,7]]},"reference":[{"key":"bibr1-0883073812443591","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31074"},{"key":"bibr2-0883073812443591","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.87"},{"key":"bibr3-0883073812443591","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181def138"},{"key":"bibr4-0883073812443591","doi-asserted-by":"publisher","DOI":"10.1186\/1824-7288-36-31"},{"key":"bibr5-0883073812443591","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.01.026"},{"key":"bibr6-0883073812443591","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.1.129"},{"key":"bibr7-0883073812443591","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808316367"},{"key":"bibr8-0883073812443591","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<387::AID-HUMU25>3.0.CO;2-W"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812443591","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073812443591","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812443591","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:02Z","timestamp":1777495022000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073812443591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,7]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1177\/0883073812443591"],"URL":"https:\/\/doi.org\/10.1177\/0883073812443591","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,7]]}}}