title: Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of the ATP2A2 gene.
abstract: 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.
authors.affiliation: Department of Biology, School of Medicine, University of Zagreb, Zagreb, Croatia.
authors.forename: Nives
authors.initials: N
authors.lastname: Pećina-Slaus
authors.forename: Visnja
authors.initials: V
authors.lastname: Milavec-Puretić
authors.forename: Milovan
authors.initials: M
authors.lastname: Kubat
authors.forename: Ivana
authors.initials: I
authors.lastname: Furac
authors.forename: Monika
authors.initials: M
authors.lastname: Karija
authors.forename: Martina
authors.initials: M
authors.lastname: Fischer-Zigmund
authors.forename: Jasna
authors.initials: J
authors.lastname: Lipozencić
mesh_terms: D000328:Adult; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000150:complications* / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006470:Hemorrhage / Q000209:etiology; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D000252:Calcium-Transporting ATPases