{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T02:37:02Z","timestamp":1777084622889,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,12]],"date-time":"2019-03-12T00:00:00Z","timestamp":1552348800000},"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":["J of Cosmetic Dermatology"],"published-print":{"date-parts":[[2019,12]]},"abstract":"Summary<\/jats:title>Background<\/jats:title>Pachyonychia congenita (PC), a rare autosomal dominant disorder, is featured by significant hypertrophic nail, palmoplantar keratoderma, and plantar pain. It is caused by the mutation of KRT6A, KRT6B, KRT6C, KRT16, or KRT17.<\/jats:p><\/jats:sec>Aims<\/jats:title>To identify the gene mutation caused the PC in a Chinese family.<\/jats:p><\/jats:sec>Patients\/Methods<\/jats:title>Genomic DNA was extracted from peripheral blood samples of five patients and six healthy individuals. Genomic DNA of three patients was sequenced by whole\u2010exome sequencing (WES). Then, exons 6 of KRT16 of all samples were amplified by polymerase chain reaction (PCR), and PCR products were sequenced to identify potential mutations.<\/jats:p><\/jats:sec>Results<\/jats:title>We identified the proline substitution mutation p.Leu421Pro (c.1262T>C) in the 2B domain of K16 that is associated with PC in a Chinese family. The same mutation was not found in the six healthy individuals of the family.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>The mutation found in this study\u00a0is the first report in China. So far, 25 mutations in KRT16 have been reportedly associated with PC. Twenty\u2010one mutations are located on exon 1, and four mutations on exon 6.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jocd.12905","type":"journal-article","created":{"date-parts":[[2019,3,12]],"date-time":"2019-03-12T07:13:33Z","timestamp":1552374813000},"page":"1930-1934","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A KRT16<\/i> mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures"],"prefix":"10.1111","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8907-9688","authenticated-orcid":false,"given":"Qiaohu","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Anhui Medical University Hefei Anhui China"},{"name":"Key Laboratory of Dermatology of Ministry of Education Anhui Medical University Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Anhui Medical University Hefei Anhui China"},{"name":"Key Laboratory of Dermatology of Ministry of Education Anhui Medical University Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Anhui Medical University Hefei Anhui China"},{"name":"Key Laboratory of Dermatology of Ministry of Education Anhui Medical University Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Dermatology the First Affiliated Hospital of Anhui Medical University Hefei Anhui China"},{"name":"Key Laboratory of Dermatology of Ministry of Education Anhui 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