{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T16:16:56Z","timestamp":1789748216662,"version":"4.0.1"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,23]],"date-time":"2018-01-23T00:00:00Z","timestamp":1516665600000},"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":[[2018,3]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>MAGEL2<\/jats:italic> is the paternally expressed gene within Prader\u2013Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of <jats:italic>MAGEL2<\/jats:italic> were identified. Patients 1 and 2, siblings born to healthy, non\u2010consanguineous Japanese parents, showed generalized hypotonia, lethargy, severe respiratory difficulty, poor feeding, and multiple anomalies including arthrogryposis soon after birth. We carried out whole\u2010exome sequencing, which detected a <jats:italic>MAGEL2<\/jats:italic> mutation (c.1912C&gt;T, p.Gln638*, heterozygous). The patients\u2019 father was heterozygous for the mutation. Patient 3 was a female infant, showed respiratory difficulty reflecting pulmonary hypoplasia, generalized hypotonia, feeding difficulty and multiple anomalies soon after birth. Targeted next\u2010generation sequencing detected a novel heterozygous mutation in <jats:italic>MAGEL2<\/jats:italic> (c.3131C&gt;A, p.Ser1044*). This mutation was not found in the parents. <jats:italic>MAGEL2<\/jats:italic> mutations, first reported to be the cause of the Prader\u2013Willi like syndrome with autism by Schaaf et al. (2013) Nature Genetics, 45: 1405\u20131408 show the wide range of phenotypic spectrum from lethal arthrogryposis multiplex congenital to autism spectrum disorder (ASD) and mild intellectual disability (ID). Our results indicate that <jats:italic>MAGEL2<\/jats:italic> mutations cause multiple congenital anomalies and intellectual disability accompanied by arthrogryposis multiplex congenita and various endocrinologic abnormalities, supporting that the view that clinical phenotypes of <jats:italic>MAGEL2<\/jats:italic> mutations are variable.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38606","type":"journal-article","created":{"date-parts":[[2018,1,23]],"date-time":"2018-01-23T08:26:47Z","timestamp":1516696007000},"page":"707-711","source":"Crossref","is-referenced-by-count":19,"title":["Three patients with Schaaf\u2013Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7514-7953","authenticated-orcid":false,"given":"Takuji","family":"Enya","sequence":"first","affiliation":[{"name":"Department of Pediatrics Kindai University Faculty of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital Osaka Japan"},{"name":"Department of Molecular Medicine Osaka Women's and Children's Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Iba","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kindai University Faculty of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Miyazawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kindai University Faculty of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuru","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kindai University Faculty of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinobu","family":"Ida","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Nutrition and Endocrinology, Osaka Women's and Children's Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuya","family":"Naruto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Biomedical Sciences, Tokushima University Tokushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4150-7938","authenticated-orcid":false,"given":"Issei","family":"Imoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Biomedical Sciences, Tokushima University Tokushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Fujita","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0987-310X","authenticated-orcid":false,"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keisuke","family":"Sugimoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kindai University Faculty of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsukasa","family":"Takemura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kindai University Faculty of Medicine Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.53"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.1"},{"key":"e_1_2_5_5_1","first-page":"335","article-title":"Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene","volume":"58","author":"Glenn C. 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