{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T21:01:17Z","timestamp":1791406877907,"version":"4.3.3"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T00:00:00Z","timestamp":1487289600000},"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":[[2017,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and <jats:italic>UBE3A<\/jats:italic> mutation all affect expression of the <jats:italic>UBE3A<\/jats:italic> gene at 15q11\u2010q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11\u2010q13 imprinting defect on the maternal allele. These patients present with a milder phenotype, often with hyperphagia and obesity or non\u2010specific intellectual disability. Unlike typical AS syndrome, they can have a vocabulary up to 100 words and speak in sentences. Ataxia and seizures may not be present, and the majority of individuals do not have microcephaly. Here we review the current literature and present three individuals with atypical AS caused by a mosaic imprinting defect to demonstrate why DNA methylation analysis at the <jats:italic>SNRPN<\/jats:italic> locus needs to be considered in a broader clinical context. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38072","type":"journal-article","created":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T13:51:08Z","timestamp":1487339468000},"page":"753-757","source":"Crossref","is-referenced-by-count":29,"title":["Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature"],"prefix":"10.1002","volume":"173","author":[{"given":"Anna","family":"Le Fevre","sequence":"first","affiliation":[{"name":"Hunter Genetics Newcastle Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmin","family":"Beygo","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen Universit\u00e4t Duisburg\u2010Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Silveira","sequence":"additional","affiliation":[{"name":"Westmead Hospital Westmead Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Kamien","sequence":"additional","affiliation":[{"name":"Hunter Genetics Newcastle Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton\u2010Smith","sequence":"additional","affiliation":[{"name":"Genetic Medicine, Manchester Academic Health Sciences Centre St. Mary's Hospital Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Colley","sequence":"additional","affiliation":[{"name":"Clinical Genetics Services South West Sydney Local Health District Liverpool Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Buiting","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen Universit\u00e4t Duisburg\u2010Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Dudding\u2010Byth","sequence":"additional","affiliation":[{"name":"Hunter Genetics Newcastle Australia"},{"name":"Hunter Genetics Genetics of Learning Disability (GOLD) Service Newcastle Australia"},{"name":"Grow Up Well Priority Research Centre The University of Newcastle Newcastle Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12155"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds465"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.e51"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/367926"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30273"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.10.001"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.87"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37058"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200362"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-6-35"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31481"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.12.834"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.05.003"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh296"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33775"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201264"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12244"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31074"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181def138"},{"key":"e_1_2_6_21_1","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1159\/000484740","article-title":"A single\u2010tube PCR test for the diagnosis of Angelman and Prader\u2013Willi syndrome based on allelic methylation differences at the SNRPN locus","volume":"5","author":"Zeschnigk M","year":"1997","journal-title":"Eur J Hum Genet"}],"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.38072","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38072","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T06:23:25Z","timestamp":1695536605000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,17]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1002\/ajmg.a.38072"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38072","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,17]]}}}