{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:46:16Z","timestamp":1789706776392,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,20]],"date-time":"2017-03-20T00:00:00Z","timestamp":1489968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003514","name":"Kommunfullm\u00e4ktige, Stockholms Stad","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003514","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Singleton\u2013Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton\u2013Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G&gt;A p.(Arg822Gln), in <jats:italic>IFIH1<\/jats:italic> (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation\u2010Associated protein 5). These data confirm the pathogenicity of <jats:italic>IFIH1<\/jats:italic> c.2465G&gt;A p.(Arg822Gln) for Singleton\u2013Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder. In addition, we expand the Singleton\u2013Merten phenotype by adding severe systemic lupus erythematosus (SLE) to the clinical picture. Investigations of known SLE genes as well as a single nucleotide polymorphism suggested to be involved in development of SLE were normal.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38214","type":"journal-article","created":{"date-parts":[[2017,3,20]],"date-time":"2017-03-20T14:16:55Z","timestamp":1490019415000},"page":"1396-1399","source":"Crossref","is-referenced-by-count":37,"title":["Further evidence for specific <i>IFIH1<\/i> mutation as a cause of Singleton\u2013Merten syndrome with phenotypic heterogeneity"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3120-1625","authenticated-orcid":false,"given":"Maria","family":"Pettersson","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden"},{"name":"Center for Molecular Medicine Karolinska Institutet Stockholm 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