{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T16:40:54Z","timestamp":1785688854351,"version":"3.56.0"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,4,20]],"date-time":"2021-04-20T00:00:00Z","timestamp":1618876800000},"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":["The Journal of Dermatology"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hailey\u2013Hailey disease (HHD) is an autosomal dominant monogenic disease that is defective in the <jats:italic>ATP2C1<\/jats:italic> gene. In previous studies, Sanger sequencing was the main method applied to detect mutations in HHD patients, and no mutations in the <jats:italic>ATP2C1<\/jats:italic> gene were found in 12\u201355% of those reported. The aim of our study was to carry out whole exome sequencing (WES) for the HHD patients in whom efforts to identify mutations by Sanger sequencing had failed, and to find a new pathogenic gene. WES was performed using genomic DNA from 13 HHD patients and 364 in\u2010house healthy controls. Potential pathogenic mutations were subsequently validated by Sanger sequencing. As a result, eight mutations in the <jats:italic>ATP2C1<\/jats:italic> gene were identified using WES. In the remaining five patients, we found one mutation in the <jats:italic>ATP2A2<\/jats:italic> gene which was the causal gene of Darier\u2019s disease. Four patients had no detectable mutations in <jats:italic>ATP2C1<\/jats:italic> and the other ATPase genes. Together with our previous study in 2019, the total mutation rate was calculated to be 47\/52 (90.4%). These findings demonstrate that WES is capable of improving the mutation detection sensitivity in HHD compared with Sanger sequencing.<\/jats:p>","DOI":"10.1111\/1346-8138.15828","type":"journal-article","created":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T17:36:44Z","timestamp":1619026604000},"page":"989-992","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Whole exome sequencing improves mutation detection in Hailey\u2013Hailey disease"],"prefix":"10.1111","volume":"48","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 &amp; Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University &amp; Shandong Academy of Medical Sciences Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenzhen","family":"Wang","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases &amp; 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Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University &amp; Shandong Academy of Medical Sciences Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Liu","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital for Skin Diseases &amp; Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University &amp; Shandong Academy of Medical Sciences Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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 &amp; Shandong Provincial Institute of Dermatology and Venereology Shandong First Medical University &amp; Shandong Academy of Medical Sciences Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,4,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.7.1131"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15055"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23164"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2010.03623.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2008.02.003"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.4238\/2015.December.29.45"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13190"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-06522-3"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.12603"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M002618200"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000107620"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.5114\/ada.2017.67087"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1586\/14737159.2015.1053467"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.15828","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.15828","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.15828","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T13:35:38Z","timestamp":1692970538000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.15828"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,20]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1111\/1346-8138.15828"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.15828","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,20]]},"assertion":[{"value":"2020-12-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}