{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T11:13:39Z","timestamp":1770290019190,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,9,20]],"date-time":"2018-09-20T00:00:00Z","timestamp":1537401600000},"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":[[2018,11]]},"abstract":"<jats:p>Schaaf\u2013Yang syndrome (SYS) was recently identified as a genetic condition resembling Prader\u2013Willi syndrome. It is caused by mutations on the paternal allele of the <jats:italic>MAGEL2<\/jats:italic> gene, a gene that has been mapped in the Prader\u2013Willi critical region. Here, we present an infant with SYS who sadly died because of the combination of hypotonia, sleep apnea, and obesity. A heterozygous premature stop mutation in <jats:italic>MAGEL2<\/jats:italic> was identified in the patient. The main factors reported in the mortality of SYS are lethal arthrogryposis multiplex congenita, fetal akinesia, and pulmonary problems. Our clinical report indicates that obesity and its complications are an important additional factor in the mortality associated with SYS. Therefore, we advise to strictly monitor weight and intensively treat overweight and obesity in SYS.<\/jats:p>","DOI":"10.1002\/ajmg.a.40486","type":"journal-article","created":{"date-parts":[[2018,9,21]],"date-time":"2018-09-21T22:04:49Z","timestamp":1537567489000},"page":"2456-2459","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["The role of obesity in the fatal outcome of Schaaf\u2013Yang syndrome: Early onset morbid obesity in a patient with a <i>MAGEL2<\/i> mutation"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9106-7478","authenticated-orcid":false,"given":"Lotte","family":"Kleinendorst","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Academic Medical Center  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graciela","family":"Pi Cast\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Universitario de la Ribera  Azira Spain"},{"name":"CIBERER (Center for Biomedical Research on Rare Diseases)\u2010U724  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfonso","family":"Caro\u2010Llopis","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica Hospital Universitari i Polit\u00e8cnic La Fe  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elles M. 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