Molecular characterization of 11 Italian patients with darier disease

Lucia Pedace, Luana Barboni, Erika Pozzetto, Ada Amantea, Giovanna Zambruno, Nicoletta Preziosi, Francesco Benedicenti, Stefania Boni, Davide de Brasi, Chiara Panetta, Carmela Ferraro, Carmelilia de Bernardo, Marco Castori, Paola Grammatico

Research output: Contribution to journalArticle

Abstract

Darier disease (DD) is an autosomal dominant genodermatosis characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Heterozygous mutations in ATP2A2, encoding the sarco-endoplasmic reticulum calcium pumping ATPase type 2, are identified as the molecular basis of DD. In this study, molecular features in a large cohort of Italian patients are reported. Molecular data were collected along with the main clinical features. Genomic DNA was used for direct sequencing of ATP2A2. The effect of selected mutations was predicted by in silico analysis or investigated by gene expression studies. 10 different ATP2A2 mutations were identified. Three mutations (c.2300A>G, c.2794G>A, c.569delAins34) have been previously described, while 7, including 2 missense (c.545G>A and c.2116G>A), 2 nonsense (c.1372G>T and c.1675C>T), 1 small deletion (c.142delA), 1 duplication (c.2935_2949dup15) and 1 splicesite mutation (c.2742-1G>A), were novel. Collected data added new variants to the ATP2A2 repertoire and confirmed that ATP2A2 mutations are scattered over the entire gene and, in most cases, private.

Original languageEnglish
Pages (from-to)334-338
Number of pages5
JournalEuropean Journal of Dermatology
Volume21
Issue number3
DOIs
Publication statusPublished - May 2011

Keywords

  • ATP2A2
  • Deletion
  • Duplication
  • Missense
  • Nonsense
  • Splicesite mutation

ASJC Scopus subject areas

  • Dermatology

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    Pedace, L., Barboni, L., Pozzetto, E., Amantea, A., Zambruno, G., Preziosi, N., Benedicenti, F., Boni, S., de Brasi, D., Panetta, C., Ferraro, C., de Bernardo, C., Castori, M., & Grammatico, P. (2011). Molecular characterization of 11 Italian patients with darier disease. European Journal of Dermatology, 21(3), 334-338. https://doi.org/10.1684/ejd.2011.1339