{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,20]],"date-time":"2025-04-20T20:25:38Z","timestamp":1745180738705,"version":"3.37.3"},"reference-count":37,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,9,11]],"date-time":"2018-09-11T00:00:00Z","timestamp":1536624000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670216"],"award-info":[{"award-number":["81670216"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Cellular Biochemistry"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hailey\u2010Hailey disease (HHD), also known as familial benign chronic pemphigus, is an autosomal dominant genodermatosis. It is characterized by erosions, blisters and erythematous plaques at sites of friction or intertriginous areas. The pathogenic gene of HHD has been revealed as the ATPase secretory pathway Ca<jats:sup>2+<\/jats:sup> transporting 1 gene (\n<jats:italic>ATP2C1<\/jats:italic>), which encodes the protein, secretory pathway Ca\n<jats:sup>2+<\/jats:sup>\/Mn\n<jats:sup>2+<\/jats:sup>\u2010ATPase 1 (SPCA1). \n<jats:italic>ATP2C1<\/jats:italic> gene mutations are responsible for HHD by resulting in abnormal Ca\n<jats:sup>2+<\/jats:sup> homeostasis in the skin and giving rise to acantholysis, a characteristic pathology of HHD. In this study, a four\u2010generation family containing three HHD sufferers was recruited. Direct sequencing of the \n<jats:italic>ATP2C1<\/jats:italic> gene was performed in the proband and other available family members. Reverse\u2010transcriptase polymerase chain reaction analysis was conducted to show the potential variant effect on \n<jats:italic>ATP2C1<\/jats:italic> splicing. A novel heterozygous c.325\u20102A&gt;G transition at the splice acceptor site of intron 4 in the \n<jats:italic>ATP2C1<\/jats:italic> gene was identified, and it co\u2010segregated with the disease in this family. The mutation resulted in exon 5 skipping and an in\u2010frame deletion of 12 amino acids (p.Ala109_Gln120del) in SPCA1. This splice\u2010site mutation may be responsible for HHD in this family. This study would further expand the mutation spectrum of the \n<jats:italic>ATP2C1<\/jats:italic> gene and may be helpful in the genetic counseling and prenatal diagnosis of HHD.<\/jats:p>","DOI":"10.1002\/jcb.27640","type":"journal-article","created":{"date-parts":[[2018,9,11]],"date-time":"2018-09-11T07:37:17Z","timestamp":1536651437000},"page":"3630-3636","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel splice\u2010site mutation in the <i><b>A<\/b>TP2C1<\/i> gene of a Chinese family with Hailey\u2010Hailey disease"],"prefix":"10.1002","volume":"120","author":[{"given":"Heng","family":"Xiao","sequence":"first","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University Changsha Hunan China"},{"name":"Department of Neurology The Third Xiangya Hospital, Central South University Changsha Hunan China"},{"name":"Department of Pathology The Third Xiangya Hospital, Central South University Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangjun","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of General Surgery The First Affiliated Hospital of Hunan University of Chinese Medicine Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongbo","family":"Xu","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xiangya Hospital, Central South University Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Xiong","sequence":"additional","affiliation":[{"name":"Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of 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