{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T15:49:02Z","timestamp":1780328942636,"version":"3.54.1"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T00:00:00Z","timestamp":1366675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,3]]},"abstract":"Angelman syndrome (AS<\/jats:styled-content>) is a neurobehavioral disorder caused by lack of function of the maternal copy of the ubiquitin\u2010protein ligase E3A<\/jats:styled-content> (UBE3A<\/jats:styled-content><\/jats:italic>) gene. In our study, 49 unrelated patients with classic AS<\/jats:styled-content> phenotypes were confirmed by methylation\u2010specific PCR<\/jats:styled-content> (MS\u2010PCR<\/jats:styled-content>) analysis, short tandem repeat linkage analysis, and mutation screening of the UBE3A<\/jats:styled-content><\/jats:italic> gene. Among the Chinese AS<\/jats:styled-content> patients, 83.7% (41\/49) had deletions on maternal chromosome 15q11.2\u201013. Paternal uniparental disomy, imprinting defects, and UBE3A<\/jats:styled-content><\/jats:italic> gene mutations each accounted for 4.1% (2\/49). Two AS<\/jats:styled-content> patients were confirmed by MS\u2010PCR<\/jats:styled-content> analysis, but the pathogenic mechanism was unknown because their parents' samples were unavailable. Of the two described UBE3A<\/jats:styled-content><\/jats:italic> gene mutations, that is, p.Pro400His<\/jats:styled-content> (c.1199C<\/jats:styled-content>>A) and p.Asp563Gly<\/jats:styled-content> (c.1688A<\/jats:styled-content>>G), the latter has not been reported previously. Mutation transmission analysis showed that the p.Pro400His<\/jats:styled-content> and p.Asp563Gly<\/jats:styled-content> mutations originated from asymptomatic mothers. The patients with the maternal deletion showed AS<\/jats:styled-content> clinical manifestations that were consistent with other studies. However, the incidence of microcephaly (36.7%, 11\/30) was lower than that in the Caucasian population (approximately 80%), but similar to that of the Japanese population (34.5%). Our study demonstrated that the occurrence of microcephaly in AS<\/jats:styled-content> may vary among different populations.<\/jats:p>","DOI":"10.1111\/cge.12155","type":"journal-article","created":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T16:41:15Z","timestamp":1364834475000},"page":"273-277","source":"Crossref","is-referenced-by-count":12,"title":["Molecular and clinical characterization of Angelman syndrome in Chinese patients"],"prefix":"10.1111","volume":"85","author":[{"given":"J.\u2010L.","family":"Bai","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Capital Institute of Pediatrics Beijing 100020 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.\u2010J.","family":"Qu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Capital Institute of Pediatrics Beijing 100020 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.\u2010W.","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Capital Institute of Pediatrics Beijing 100020 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Capital Institute of Pediatrics Beijing 100020 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.\u2010L.","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing 100034 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.\u2010W.","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing 100034 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.\u2010Y.","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University Beijing 100045 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.\u2010P.","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics General Hospital of Chinese People's Liberation Army Beijing 100852 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Capital Institute of Pediatrics Beijing 100020 China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31074"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460105"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<387::AID-HUMU25>3.0.CO;2-W"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0020397"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.1.129"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.2.309"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-12"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971219)73:3<308::AID-AJMG15>3.0.CO;2-N"},{"issue":"1","key":"e_1_2_6_10_1","first-page":"84","article-title":"A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome","volume":"124","author":"Bai JL","year":"2011","journal-title":"Chin Med J (Engl)"},{"issue":"3","key":"e_1_2_6_11_1","first-page":"173","article-title":"Capital Institute of Pediatrics, Coordinating Study Group of Nine Cities on the Physical Growth and Development of Children. 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