Pećina-Slaus Nives, Milavec-Puretić Visnja, Kubat Milovan, Furac Ivana, Karija Monika, Fischer-Zigmund Martina, Lipozencić Jasna
Department of Biology, School of Medicine, University of Zagreb, Zagreb, Croatia.
Coll Antropol. 2003 Jun;27(1):125-33.
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 Croation 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.
达里埃病（毛囊角化不良，DD）是一种遗传性疾病，其特征是角质化的致病变化伴有多种皮肤表型。最近，研究表明达里埃病会导致位于12q24.1的ATP2A2基因突变。该基因编码2型肌浆网钙ATP酶（SERCA2）。据报道，外显子15中的突变是与肢端出血型达里埃病相关的最一致的突变。通过直接测序，我们对一个克罗地亚家族的ATP2A2基因外显子15进行了研究，该家族中有一名成员患有出血性达里埃病，但在我们研究的家族中未记录到任何突变。我们的结果表明，ATP2A2基因外显子15中的突变不是肢端出血型达里埃病的必要先决条件。我们的发现支持了达里埃病临床表现的变异性以及基因型/表型一致性的缺乏。
