{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T06:26:58Z","timestamp":1768285618290,"version":"3.49.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Key Basic Research Program of China","award":["2014CB541901"],"award-info":[{"award-number":["2014CB541901"]}]},{"DOI":"10.13039\/501100001809","name":"National Nature Science Foundation of China","doi-asserted-by":"crossref","award":["30500440"],"award-info":[{"award-number":["30500440"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Cosmetic Dermatology"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in the desmoplakin (<jats:italic><jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content><\/jats:italic>) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (<jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Aims<\/jats:title><jats:p>To better understand the relationship between <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content> and the gene mutations in <jats:italic><jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content><\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A pedigree of <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content> was subjected to heterozygous missense mutation analysis in the <jats:italic><jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content><\/jats:italic> gene. Dermoscopy, reflectance confocal microscopy, and histopathological examination were performed from each epidermis layer in this study. Samples were derived from the blood of patients and normal healthy controls. <jats:italic><jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content><\/jats:italic> gene sequence analysis and Q\u2010<jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> analysis was performed for evaluating <jats:italic><jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content><\/jats:italic> gene mutation and expression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel heterozygous missense mutation c.3550 C&gt;T in the coding region of the <jats:italic><jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content><\/jats:italic> gene, predicting substitution of arginine (Arg,R) by tryptophan (Trp,W) in the desmoplakin polypeptide, was discovered in a Chinese pedigree of <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content>. In the meanwhile, this mutation was not found in 100 healthy individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The novel missense mutation c.3550 C&gt;T(p.Arg1184Trp) of <jats:italic><jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content><\/jats:italic> gene expanded the mutation spectrum in palmoplantar keratoderma.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jocd.12533","type":"journal-article","created":{"date-parts":[[2018,4,2]],"date-time":"2018-04-02T06:37:08Z","timestamp":1522651028000},"page":"371-376","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel heterozygous missense mutation of <i><scp>DSP<\/scp><\/i> in a Chinese Han pedigree with palmoplantar keratoderma"],"prefix":"10.1111","volume":"18","author":[{"given":"Ke","family":"Xue","sequence":"first","affiliation":[{"name":"Department of Dermatology China\u2010Japan Friendship Hospital Beijing 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