{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T07:19:14Z","timestamp":1773731954739,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,8,28]],"date-time":"2021-08-28T00:00:00Z","timestamp":1630108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic\u2010activating variants of interferon induced with Helicase C domain 1 (<jats:italic>IFIH1<\/jats:italic>) cause Singleton\u2010Merten (S\u2010M) syndrome, which accompanies acro\u2010osteolysis, loss of permanent teeth, and aortic calcification, as well as causing Aicardi\u2010Gouti\u00e8res (A\u2010G) syndrome, which shows progressive encephalopathy, spastic paraplegia, and calcification of basal ganglia. Recently, patients with overlapping syndromes presenting with features of S\u2010M syndrome and A\u2010G syndrome were reported. However, progression of clinical features of this condition has not been fully understood. We report a Japanese boy with a novel pathogenic <jats:italic>IFIH1<\/jats:italic> variant who presented with clinical features of S\u2010M syndrome and A\u2010G syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62478","type":"journal-article","created":{"date-parts":[[2021,8,28]],"date-time":"2021-08-28T09:42:28Z","timestamp":1630143748000},"page":"249-252","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel pathogenic variant p.<scp>Asp797Val<\/scp> in <scp><i>IFIH1<\/i><\/scp> in a Japanese boy with overlapping <scp>Singleton\u2010Merten<\/scp> syndrome and <scp>Aicardi\u2010Gouti\u00e8res<\/scp> syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1751-6527","authenticated-orcid":false,"given":"Kosei","family":"Hasegawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics Okayama University Hospital  Okayama 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