{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:20:48Z","timestamp":1747182048044,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T00:00:00Z","timestamp":1566345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hailey\u2013Hailey disease (<jats:styled-content style=\"fixed-case\">HHD<\/jats:styled-content>) is a rare autosomal dominant inherited keratosis caused by mutations in <jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>2C1<\/jats:italic>. The aim of our study was to identify and analyze the features of the mutations in <jats:styled-content style=\"fixed-case\">HHD<\/jats:styled-content>. We examined 52 Chinese Han cases which were diagnosed as <jats:styled-content style=\"fixed-case\">HHD<\/jats:styled-content> based on their clinical and histological findings. Genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> polymerase chain reaction and direct sequencing of <jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>2C1<\/jats:italic> were performed from peripheral blood samples of the patients and 100 unrelated healthy controls. Twenty\u2010five novel mutations and 14 recurrent mutations were identified, including 11 (28.2%) missense mutations, nine (23.1%) frame\u2010shift deletion mutations, eight (20.5%) nonsense mutations, seven (17.9%) splicing mutations and four (10.3%) frame\u2010shift insertion mutations. Together with ours, all 209 mutations showed a uniform distribution without hotspots or clusters. In addition, there is no specific genotype\u2013phenotype correlation in <jats:styled-content style=\"fixed-case\">HHD<\/jats:styled-content>. Our findings update the spectrum of mutations in <jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>2C1<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/1346-8138.15055","type":"journal-article","created":{"date-parts":[[2019,8,22]],"date-time":"2019-08-22T04:23:33Z","timestamp":1566447813000},"page":"1024-1026","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Review of 52 cases with Hailey\u2013Hailey disease identified 25 novel mutations in Chinese Han population"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3253-5793","authenticated-orcid":false,"given":"Zhe","family":"Wang","sequence":"first","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases Shandong University Jinan China"},{"name":"Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University and Shandong Academy of Medical Sciences Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lulu","family":"Li","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University and Shandong Academy of Medical Sciences Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lele","family":"Sun","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University and Shandong Academy of Medical Sciences Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zihao","family":"Mi","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University and Shandong Academy of Medical Sciences Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanghui","family":"Fu","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases Shandong University Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gongqi","family":"Yu","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University and Shandong Academy of Medical Sciences Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xian","family":"Fu","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University and Shandong Academy of Medical Sciences Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Liu","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases Shandong University Jinan China"},{"name":"Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University and Shandong Academy of Medical Sciences Jinan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3383-1973","authenticated-orcid":false,"given":"Furen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases Shandong University Jinan China"},{"name":"Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University and Shandong Academy of Medical Sciences Jinan 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