{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T20:12:40Z","timestamp":1791922360842,"version":"4.3.4"},"reference-count":72,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T00:00:00Z","timestamp":1624838400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Key R &amp; D Projects of Zhejiang Provincial Department of Science and Technology","award":["2021C03094"],"award-info":[{"award-number":["2021C03094"]}]},{"name":"National Natural Science Foundation of China","award":["81371215 & 81670786"],"award-info":[{"award-number":["81371215 & 81670786"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin\u2013protein ligase E3A (UBE3A) on the chromosome 15q11\u201313 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy, and distinct behavioral profile. There are four molecular mechanisms of etiology: maternal deletion of chromosome 15q11\u2013q13, paternal uniparental disomy of chromosome 15q11\u2013q13, imprinting defects, and maternally inherited UBE3A mutations. Different genetic types may show different phenotypes in performance, seizure, behavior, sleep, and other aspects. AS caused by maternal deletion of 15q11\u201313 appears to have worse development, cognitive skills, albinism, ataxia, and more autistic features than those of other genotypes. Children with a UBE3A mutation have less severe phenotypes and a nearly normal development quotient. In this review, we proposed to review genotype\u2013phenotype correlations based on different genotypes. Understanding the pathophysiology of the different genotypes and the genotype\u2013phenotype correlations will offer an opportunity for individualized treatment and genetic counseling. Genotype\u2013phenotype correlations based on larger data should be carried out for identifying new treatment modalities.<\/jats:p>","DOI":"10.3390\/genes12070987","type":"journal-article","created":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T11:45:40Z","timestamp":1624880740000},"page":"987","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Genotype\u2013Phenotype Correlations in Angelman Syndrome"],"prefix":"10.3390","volume":"12","author":[{"given":"Lili","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Shu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Center, Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shujiong","family":"Mao","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics, Hangzhou First People\u2019s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s Hospital of Fudan University, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaonan","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s Hospital of Fudan University, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaochun","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1097\/GIM.0b013e3181def138","article-title":"Clinical and genetic aspects of Angelman syndrome","volume":"12","author":"Williams","year":"2010","journal-title":"Genet. 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