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标题：Clinical Case of Acral Hemorrhagic Darier's Disease is not Caused by Mutations in Exon 15 of the ATP2A2 Gene
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作者：Pećina-Šlaus, Nives ; Milavec-Puretić, Višnja ; Kubat, Milovan 等
期刊名称：Collegium Antropologicum
印刷版ISSN：0350-6134
出版年度：2003
卷号：27
期号：1
页码：125-133
出版社：Hrvatsko antropološko društvo
摘要：Darier's disease (Dyskeratosis follicularis, DD) is a genetic disorder characterized by pathogenetic changes of keratinization with variant forms of cutaneous phenotype. Recently, it has been showed that Darier's disease cause mutations in the ATP2A2 gene, at 12q24.1. The gene encodes sarco-endoplasmic reticulum calcium ATPase type 2 (SERCA2). Mutations in exon 15 are reported to be the most consistent mutations associated with the acral hemorrhagic type of Darier's disease. By direct sequencing we investigated exon 15 of the ATP2A2 gene in a Croatian family in which one member had a hemorrhagic Darier's disease, but did not record any mutation in the family we investigated. Our results show that mutations in exon 15 of the ATP2A2 gene are not a necessary prerequisite for acral hemorrhagic type of Darier's disease. Our finding support the variability of clinical manifestations of Darier's disease and lack of genotype/phenotype consistency.
关键词：keratosis follicularis; Darier's disease; ATP2A2 gene