{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:46:54Z","timestamp":1792043214043,"version":"4.4.0"},"reference-count":34,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,20]],"date-time":"2020-08-20T00:00:00Z","timestamp":1597881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Prader\u2013Willi syndrome (PWS) is a prototypic genetic condition related to imprinting. Causative mechanisms include paternal 15q11\u2010q13 deletion, maternal chromosome 15 uniparental disomy (UPD15), Prader\u2013Willi Syndrome\/Angelman Syndrome (PWS\/AS) critical region imprinting defects, and complex chromosomal rearrangements. Maternal UPD15\u2010related PWS poses risks of concomitant autosomal recessive (AR) disorders when the mother carries a pathogenic variant in one of the genes on chromosome 15 associated with autosomal recessive inherited disease. Co\u2010occurrence of autosomal recessive conditions in the setting of UPD leads to increased complexity of the clinical phenotype, and may delay the diagnosis of PWS. We report a patient with PWS and associated congenital ichthyosis due to maternal UPD15, and a homozygous novel pathogenic variant in ceramide synthase 3 (<jats:italic>CERS3<\/jats:italic>). We also review the literature of associated disorders reported in the setting of maternal UPD15\u2010related PWS and provide a summary of the previously described <jats:italic>CERS3<\/jats:italic> variants. This represents the second case of autosomal recessive congenital ichthyosis (ARCI) in the setting of PWS and UPD15. There needs to be a high index of suspicion of this genetic mechanism when there is unexpected phenotype or evolution of the clinical course in a patient with PWS.<\/jats:p>","DOI":"10.1002\/ajmg.a.61792","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T03:14:25Z","timestamp":1598584465000},"page":"2442-2449","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Congenital ichthyosis in Prader\u2013Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by <scp>UPD<\/scp>"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1009-6555","authenticated-orcid":false,"given":"Karthik","family":"Muthusamy","sequence":"first","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica L.","family":"Macke","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Health Sciences Research Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric W.","family":"Klee","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Center for Individualized Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Health Sciences Research Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Tebben","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Division of Pediatric Endocrinology Mayo Clinic  Rochester Minnesota USA"},{"name":"Division of Endocrinology, Diabetes, Metabolism, and Nutrition Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Hand","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Dermatology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Hasadsri","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cherisse A.","family":"Marcou","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Schimmenti","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Center for Individualized Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Otorhinolaryngology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-015-0312-9"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/0009922815617973"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-1711"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<543::AID-AJMG27>3.0.CO;2-U"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.81"},{"key":"e_1_2_9_7_1","volume-title":"GeneReviews([R])","author":"Driscoll D. 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