{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:47:05Z","timestamp":1758818825108,"version":"3.41.2"},"reference-count":33,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,8,10]],"date-time":"2019-08-10T00:00:00Z","timestamp":1565395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIH RDCRN Angelman Syndrome sub-consortium"],"award-info":[{"award-number":["NIH RDCRN Angelman Syndrome sub-consortium"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001951","name":"Angelman Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001951","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Angelman Syndrome (AS) is a neurodevelopmental disorder with core features of intellectual disability, speech impairment, movement disorders, and a unique behavioral profile. Typically, AS results from absent maternal expression of <jats:italic>UBE3A<\/jats:italic>, but some individuals have imprinting defects in a portion of their cells. These individuals are mosaic for normal and defective <jats:italic>UBE3A<\/jats:italic> expression, resulting in mosaic AS (mAS) with a partial loss of gene expression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study aims to contrast the mAS phenotype to that of AS. Clinical characteristics of mAS were obtained from a parental survey of 22 mAS patients and from the Angelman Natural History study. These were contrasted with those of AS using historical data.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Developmental delay was present in nearly all mAS patients, whereas the core features of AS were reported in less than 40%. While language and ability to manage activities of daily living were markedly improved over that expected in AS, mAS patients demonstrated a high incidence of behavioral challenges.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Clinical work\u2010up of an individual with developmental delay, hyperactivity, anxiety, and an uncharacteristically happy demeanor should prompt methylation studies to rule out mAS. We expand the phenotypic spectrum of AS to include features that overlap with Prader\u2010Willi such as hyperphagia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.837","type":"journal-article","created":{"date-parts":[[2019,8,10]],"date-time":"2019-08-10T07:40:59Z","timestamp":1565422859000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome"],"prefix":"10.1002","volume":"7","author":[{"given":"Robert P.","family":"Carson","sequence":"first","affiliation":[{"name":"Divisions of Child Neurology and Epilepsy, Department of Pediatrics Vanderbilt Brain Institute, Vanderbilt University Medical Center Nashville Tennessee"},{"name":"Department of Pharmacology Vanderbilt Brain Institute, Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynne","family":"Bird","sequence":"additional","affiliation":[{"name":"Division of Genetics\/Dysmorphology, Department of Pediatrics Rady Children\u2019s Hospital, University of California San Diego San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna K.","family":"Childers","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferrin","family":"Wheeler","sequence":"additional","affiliation":[{"name":"Department of Pathology, Microbiology, and Immunology Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6605-1028","authenticated-orcid":false,"given":"Jessica","family":"Duis","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,10]]},"reference":[{"issue":"26","key":"e_1_2_8_2_1","first-page":"1","article-title":"Patients with mosaic methylation patterns of the Prader\u2010Willi\/Angelman Syndrome critical region exhibit AS\u2010like phenotypes with some PWS features","volume":"9","author":"Aypar U.","year":"2016","journal-title":"Molecular Cytogenetics"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0495-395"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.10.001"},{"issue":"61","key":"e_1_2_8_5_1","first-page":"1","article-title":"Reducing selection bias in case\u2010control studies from rare disease registries","volume":"6","author":"Cole J. A.","year":"2011","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/134.4.799"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37058"},{"issue":"31","key":"e_1_2_8_8_1","first-page":"1","article-title":"Epilepsy in patients with Angelman syndrome","volume":"36","author":"Fiumara A.","year":"2010","journal-title":"Italian Journal of Pediatrics"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/DBP.0b013e3181ee408e"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200362"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.12.2001"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jar.12305"},{"issue":"41","key":"e_1_2_8_13_1","first-page":"664","article-title":"Avoiding bias in observational studies: Part 8 in a series of articles on evaluation of scientific publications","volume":"106","author":"Hammer G. P.","year":"2009","journal-title":"Deutsches Arzteblatt International"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/npp.2014.92"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-70"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31481"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38072"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.1996.tb00902.x"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.12.834"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280407"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181f8baad"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh296"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1292-265"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11357-015-9785-x"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0294-163"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1554787"},{"issue":"12","key":"e_1_2_8_27_1","first-page":"e740","article-title":"Measuring the patient experience in primary care: Comparing e\u2010mail and waiting room survey delivery in a family health team","volume":"62","author":"Slater M.","year":"2016","journal-title":"Canadian Family Physician"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12321"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2017.07.041"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02108.x"},{"issue":"16","key":"e_1_2_8_31_1","article-title":"GABA(A) receptors in the lateral hypothalamus as mediators of satiety and body weight regulation","volume":"1262","author":"Turenius C. I.","year":"2009","journal-title":"Brain Research"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2011.11.027"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31074"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181def138"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.837","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.837","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.837","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.837","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T00:31:23Z","timestamp":1694219483000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.837"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,10]]},"references-count":33,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/mgg3.837"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.837","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2019,8,10]]},"assertion":[{"value":"2019-03-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e837"}}