Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of the ATP2A2 gene.
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.
Pećina-Slaus
Nives
N
Department of Biology, School of Medicine, University of Zagreb, Zagreb, Croatia.
Milavec-Puretić
Visnja
V
Kubat
Milovan
M
Furac
Ivana
I
Karija
Monika
M
Fischer-Zigmund
Martina
M
Lipozencić
Jasna
J
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
D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D000252:Calcium-Transporting ATPases