{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T04:11:18Z","timestamp":1790223078525,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,7,12]],"date-time":"2018-07-12T00:00:00Z","timestamp":1531353600000},"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":[[2019,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary leukonychia is a rare nail dystrophy characterized by distinctive whitening of the nail plate. Mutations in the PLCD1 gene have been identified as a major causative factor in hereditary leukonychia (HL). However, few reports have analyzed the relationship between genotype and phenotype, especially in Chinese HL patients. Our study aims to explore the typical clinical features of hereditary leukonychia cases in Chinese Han pedigree and the correlations with PLCD1 gene mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p>In this study, two Chinese patients presented with leukonychia and koilonychia. Whole\u2010exome sequencing (WES) was performed to screen for the mutations in PLCD1 gene and other candidate genes for hereditary leukonychia. Parents with PLCD1 mutation were selected for Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel heterozygote missense mutation in exon 9 of PLCD1 gene was identified in the proband and his mother. Whole\u2010exome sequencing revealed both, the proband (III.5) and his mother (II.4) carrying c.1451A&gt;G mutation, while other family members had a normal sequence of the PLCD1 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>For the first time, a hereditary leukonychia case with PLCD1 mutation has been described in Chinese Han pedigree. This finding suggests the PLCD1 mutation maybe involved in hereditary leukonychia.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jocd.12707","type":"journal-article","created":{"date-parts":[[2018,7,13]],"date-time":"2018-07-13T01:14:36Z","timestamp":1531444476000},"page":"912-915","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia"],"prefix":"10.1111","volume":"18","author":[{"given":"Ke","family":"Xue","sequence":"first","affiliation":[{"name":"Department of Dermatology China\u2010Japan Friendship Hospital Beijing China"},{"name":"Graduate School of Peking Union Medical College Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yajie","family":"Zheng","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital Anhui Medical University  Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changbing","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Dermatology China\u2010Japan Friendship Hospital Beijing China"},{"name":"Graduate School of Peking Union Medical College Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6314-3610","authenticated-orcid":false,"given":"Yong","family":"Cui","sequence":"additional","affiliation":[{"name":"Department of Dermatology China\u2010Japan Friendship Hospital Beijing China"},{"name":"Graduate School of Peking Union Medical College Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"},{"name":"Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital 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