{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T08:05:02Z","timestamp":1787990702246,"version":"build-2784847793"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,3,10]],"date-time":"2022-03-10T00:00:00Z","timestamp":1646870400000},"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":["The Journal of Dermatology"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hailey\u2013Hailey disease (HHD) is an autosomal dominant genodermatosis and the defective gene in HHD is <jats:italic>ATP2C1<\/jats:italic>, which encodes secretory pathway Ca<jats:sup>2+<\/jats:sup>\/Mn<jats:sup>2+<\/jats:sup> ATPase type 1 (SPCA1). Here we report four Japanese HHD patients showing three kinds of mutations with premature termination codons in the <jats:italic>ATP2C1<\/jats:italic> gene, including two novel ones. Patient 1 was a 39\u2010year\u2010old man with a novel heterozygous mutation, c.664dup in exon 8 (p.N215Kfs*26). Patient 2 was a 33\u2010year\u2010old man (the younger brother of patient 1) with the same mutation as patient 1. Patient 3 was a 55\u2010year\u2010old man with a previously reported heterozygous mutation, c.519dup in exon 7 (p.R174Tfs*4). Patient 4 was a 33\u2010year\u2010old woman with a novel heterozygous mutation, c.2640del in exon 27 (p.L881Ffs*10). The clinical characteristics of our four cases varied in disease severity and the response to treatment. The present cases enrich the database of mutational analysis for HHD.<\/jats:p>","DOI":"10.1111\/1346-8138.16353","type":"journal-article","created":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T04:39:13Z","timestamp":1646973553000},"page":"656-660","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Two novel mutations in the <scp><i>ATP2C1<\/i><\/scp> gene found in Japanese patients with <scp>Hailey\u2013Hailey<\/scp> disease"],"prefix":"10.1111","volume":"49","author":[{"given":"Shun","family":"Miyazaki","sequence":"first","affiliation":[{"name":"Department of Dermatology Nippon Medical School  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Nakano","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine  Hirosaki 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