{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T21:36:39Z","timestamp":1765056999838,"version":"3.37.3"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007777","name":"Tokyo University of Agriculture","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007777","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005760","name":"G\u00f6teborgs Universitet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005760","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007212","name":"V\u00e4stra G\u00f6talandsregionen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007212","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>White sponge nevus is a rare autosomal dominant disorder that affects the non\u2010keratinised stratified squamous epithelium. Mutations in the genes that encode mucosa\u2010specific keratin\u20104 and keratin\u201013 are strongly linked to the manifestation of white sponge nevus. This study involved mutational analysis of the genes encoding keratin\u20104 and keratin\u201013 in two Swedish families with white sponge nevus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The diagnosis of white sponge nevus was based on disease history, clinical characteristics of the lesions and, in the majority of the cases, histopathological examination. Samples were collected from the affected buccal mucosa using buccal swabs. <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was subsequently extracted and amplified using touchdown\u2010<jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>. The keratin\u20104 and keratin\u201013 genes were sequenced, and a genetic analysis was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel heterozygous missense mutation was identified in exon 1A of the keratin\u20104 gene in Family 2. In addition, previously reported heterozygous missense mutations were identified in the keratin\u20104 (E449K, A72V, Q156R, R208H) and keratin\u201013 (L115P) genes in both families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We describe a novel heterozygous missense mutation in the keratin\u20104 gene of a Swedish family with white sponge nevus. Our results support the notion that mutations in keratin\u20104 and keratin\u201013 are the underlying cause of white sponge nevus.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jop.12652","type":"journal-article","created":{"date-parts":[[2017,10,19]],"date-time":"2017-10-19T08:22:44Z","timestamp":1508401364000},"page":"152-157","source":"Crossref","is-referenced-by-count":16,"title":["Mutations in the genes for keratin\u20104 and keratin\u201013 in Swedish patients with white sponge nevus"],"prefix":"10.1111","volume":"47","author":[{"given":"Maria","family":"Westin","sequence":"first","affiliation":[{"name":"Department of Oral Medicine and Pathology Institute of Odontology The Sahlgrenska Academy University of Gothenburg Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elham","family":"Rekabdar","sequence":"additional","affiliation":[{"name":"Genomics Core Facility The Sahlgrenska Academy University of Gothenburg Gothenburg 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