{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:43:52Z","timestamp":1787028232000,"version":"build-2736575974"},"reference-count":34,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,8,14]],"date-time":"2022-08-14T00:00:00Z","timestamp":1660435200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Shanghai Key Laboratory of Birth Defects","award":["13DZ2260600"],"award-info":[{"award-number":["13DZ2260600"]}]},{"name":"Shanghai Key Laboratory of Birth Defects","award":["2017SHZDZX01"],"award-info":[{"award-number":["2017SHZDZX01"]}]},{"name":"Shanghai Key Laboratory of Birth Defects","award":["2018SHZDZX01"],"award-info":[{"award-number":["2018SHZDZX01"]}]},{"name":"Shanghai Key Laboratory of Birth Defects","award":["2018B030335001"],"award-info":[{"award-number":["2018B030335001"]}]},{"name":"Shanghai Municipal Science and Technology Major Project","award":["13DZ2260600"],"award-info":[{"award-number":["13DZ2260600"]}]},{"name":"Shanghai Municipal Science and Technology Major Project","award":["2017SHZDZX01"],"award-info":[{"award-number":["2017SHZDZX01"]}]},{"name":"Shanghai Municipal Science and Technology Major Project","award":["2018SHZDZX01"],"award-info":[{"award-number":["2018SHZDZX01"]}]},{"name":"Shanghai Municipal Science and Technology Major Project","award":["2018B030335001"],"award-info":[{"award-number":["2018B030335001"]}]},{"name":"Shanghai Municipal Science and Technology Major Project and ZJLab","award":["13DZ2260600"],"award-info":[{"award-number":["13DZ2260600"]}]},{"name":"Shanghai Municipal Science and Technology Major Project and ZJLab","award":["2017SHZDZX01"],"award-info":[{"award-number":["2017SHZDZX01"]}]},{"name":"Shanghai Municipal Science and Technology Major Project and ZJLab","award":["2018SHZDZX01"],"award-info":[{"award-number":["2018SHZDZX01"]}]},{"name":"Shanghai Municipal Science and Technology Major Project and ZJLab","award":["2018B030335001"],"award-info":[{"award-number":["2018B030335001"]}]},{"name":"Guangdong Key Project in \u201cDevelopment of new tools for diagnosis and treatment of Autism\u201d","award":["13DZ2260600"],"award-info":[{"award-number":["13DZ2260600"]}]},{"name":"Guangdong Key Project in \u201cDevelopment of new tools for diagnosis and treatment of Autism\u201d","award":["2017SHZDZX01"],"award-info":[{"award-number":["2017SHZDZX01"]}]},{"name":"Guangdong Key Project in \u201cDevelopment of new tools for diagnosis and treatment of Autism\u201d","award":["2018SHZDZX01"],"award-info":[{"award-number":["2018SHZDZX01"]}]},{"name":"Guangdong Key Project in \u201cDevelopment of new tools for diagnosis and treatment of Autism\u201d","award":["2018B030335001"],"award-info":[{"award-number":["2018B030335001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Angelman syndrome (AS) is a neurodevelopmental genetic disorder, but there has been limited analysis of a large cohort of Chinese children with Angelman syndrome. This study aims to assess the phenotype and genotype of Chinese children with Angelman syndrome. We retrospectively analyzed data through a detailed online survey combined with an on-site study. Furthermore, phenotype analysis stratified by deletion and non-deletion groups was carried out. The responses of family members of 695 individuals with AS revealed that 577 patients (83.02%) had maternal deletions, 65 patients (9.35%) carried UBE3A mutations, 31 (4.46%) patients had UPD15pat (one patient with UPD15pat constituted by a mosaic), 10 patients (1.44%) had imprinting defects and 12 (1.58%) patients only showed abnormal methylation without further detection. We identified 50 different pathogenic variants in this cohort, although 18 of these variants were unreported. Recurrent variant c.2507_2510del (p.K836Rfs*4) was found in 7 patients. In the deletion group, patients were diagnosed at an earlier age, had a more severe clinical phenotype, a higher rate of epilepsy with more multiple seizure types, and more frequently combined medication. Strabismus and sleep disturbances were both common in deletion and non-deletion groups. The top three resources invested in caring for AS children are: daily involvement in patient care, rehabilitation cost, and anti-epileptic treatment. Our study showed the genetic composition of Chinese children with 83.02% of maternal deletions, and the mutation spectrum for UBE3A variants was expanded. Developmental outcomes are associated with genotype, and this was confirmed by deletion patients having a worse clinical phenotype and complex epilepsy.<\/jats:p>","DOI":"10.3390\/genes13081447","type":"journal-article","created":{"date-parts":[[2022,8,15]],"date-time":"2022-08-15T01:47:21Z","timestamp":1660528041000},"page":"1447","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0821-433X","authenticated-orcid":false,"given":"Xiaonan","family":"Du","sequence":"first","affiliation":[{"name":"Division of Neurology, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuang","family":"Li","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Ma","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianqi","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bingbing","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanfeng","family":"Zhou","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"},{"name":"Department of Neuroelectrophysiology, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lifei","family":"Yu","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"},{"name":"Department of Neuroelectrophysiology, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Children\u2019s Medical Center, Children\u2019s Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China"},{"name":"Division of Hosptial Administration, Shanghai Medical College, Fudan University, 138 Yixueyuan Road, Shanghai 200032, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,8,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/ajmg.1320110411","article-title":"The Angelman (\u201chappy puppet\u201d) syndrome","volume":"11","author":"Williams","year":"1982","journal-title":"Am. 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