{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:19:43Z","timestamp":1773235183446,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T00:00:00Z","timestamp":1659571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Angelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited <jats:italic>UBE3A<\/jats:italic> gene. Individuals with AS typically have significant developmental delay, severe speech impairment with absent to minimal verbal language, gait abnormalities including ataxia, and an incongruous happy demeanor. The majority of individuals with AS also have seizures and microcephaly. Some individuals with mosaic AS have been reported to have expressive language and milder levels of developmental delay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Report<\/jats:title><jats:p>We report a male patient presenting with mild to moderate intellectual disability, hyperphagia, obesity, and the ability to communicate verbally. His phenotype was suggestive of Prader\u2010Willi syndrome. However, methylation testing was positive for Angelman syndrome and additional methylation specific multiplex ligation\u2010dependent amplification (MS\u2010MLPA) study revealed low\u2010level mosaicism for AS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A broader phenotypic spectrum should be considered for AS as patients with atypical presentations may otherwise elude diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2018","type":"journal-article","created":{"date-parts":[[2022,8,5]],"date-time":"2022-08-05T06:40:34Z","timestamp":1659681634000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Atypical presentation of Angelman syndrome with intact expressive language due to <scp>low\u2010level<\/scp> mosaicism"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0247-3322","authenticated-orcid":false,"given":"Ruchi","family":"Punatar","sequence":"first","affiliation":[{"name":"Division of Developmental Behavioral Pediatrics, Department of Pediatrics University of California Davis  Sacramento California USA"},{"name":"MIND Institute University of California Davis  Sacramento California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alena","family":"Egense","sequence":"additional","affiliation":[{"name":"MIND Institute University of California Davis  Sacramento California USA"},{"name":"Division of Genomic Medicine, Department of Pediatrics University of California Davis  Sacramento California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Mao","sequence":"additional","affiliation":[{"name":"ARUP Laboratories  Salt Lake City Utah USA"},{"name":"Department of Pathology University of Utah  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melinda","family":"Procter","sequence":"additional","affiliation":[{"name":"ARUP Laboratories  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Bosworth","sequence":"additional","affiliation":[{"name":"ARUP Laboratories  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise I.","family":"Quigley","sequence":"additional","affiliation":[{"name":"ARUP Laboratories  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen","family":"Angkustsiri","sequence":"additional","affiliation":[{"name":"Division of Developmental Behavioral Pediatrics, Department of Pediatrics University of California Davis  Sacramento California USA"},{"name":"MIND Institute University of California Davis  Sacramento California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7100-5691","authenticated-orcid":false,"given":"Suma P.","family":"Shankar","sequence":"additional","affiliation":[{"name":"MIND Institute University of California Davis  Sacramento California USA"},{"name":"Division of Genomic Medicine, Department of Pediatrics University of California Davis  Sacramento California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,8,4]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61382"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.e51"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30273"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2016.133"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.10.001"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.837"},{"key":"e_1_2_11_8_1","first-page":"2","article-title":"NCBI Bookshelf\u2014GeneReviews\u2122. Angelman Syndrome","volume":"2","author":"Dagli A. I.","year":"2017","journal-title":"Scielo"},{"key":"e_1_2_11_9_1","article-title":"NCBI Bookshelf\u2014GeneReviews\u2122. Prader\u2010Willi Syndrome","author":"Driscoll D. 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