Izvorni znanstveni članak
Clinical Case of Acral Hemorrhagic Darier's Disease is not Caused by Mutations in Exon 15 of the ATP2A2 Gene
Nives Pećina-Šlaus
Višnja Milavec-Puretić
Milovan Kubat
Ivana Furač
Monika Karija
Martina Fischer-Žigmund
Jasna Lipozenčić
Sažetak
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.
Ključne riječi
keratosis follicularis; Darier's disease; ATP2A2 gene
Hrčak ID:
28094
URI
Datum izdavanja:
16.6.2003.
Posjeta: 1.278 *