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Molecular characterization of 11 Italian patients with Darier disease.
- Source :
-
European journal of dermatology : EJD [Eur J Dermatol] 2011 May-Jun; Vol. 21 (3), pp. 334-8. - Publication Year :
- 2011
-
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 splice-site 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.
- Subjects :
- Adolescent
Adult
Child
DNA Mutational Analysis
Darier Disease epidemiology
Darier Disease metabolism
Female
Heterozygote
Humans
Italy epidemiology
Male
Pedigree
Prevalence
Sarcoplasmic Reticulum Calcium-Transporting ATPases metabolism
Young Adult
DNA genetics
Darier Disease genetics
Genetic Predisposition to Disease
Mutation
Sarcoplasmic Reticulum Calcium-Transporting ATPases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1167-1122
- Volume :
- 21
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- European journal of dermatology : EJD
- Publication Type :
- Academic Journal
- Accession number :
- 21527373
- Full Text :
- https://doi.org/10.1684/ejd.2011.1339