title: Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease.
abstract: Darier's disease (DD, OMIM 124200) is an autosomal dominant inherited genodermatosis characterized by warty papules and plaques in seborrheic areas, and loss of adhesion between suprabasal epidermal keratinocytes (acantholysis) and abnormal keratinisation (dyskeratosis). Till date, more than 150 pathogenic mutations in the ATP2A2 (SERCA2) gene, which encodes the sarcoplasmic/endoplasmic reticulum Ca(2+) ATPase isoform 2, have been identified as the genetic basis of DD. Our report of eight DD patients from Austria add seven novel variants (L32P, 149-158del10 each in two different non-consanguineous patients, S72Y, F73S, K460X, 2734delC, T982 M) to the repertoire of ATP2A2 mutations in the DD database which is in line with previous reports that most mutations are related to the 5'- and the 3'-end of the gene.
authors.affiliation: Division of Molecular Dermatology, Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: A
authors.initials: A
authors.lastname: Klausegger
authors.forename: E
authors.initials: E
authors.lastname: Nischler
authors.forename: R N
authors.initials: RN
authors.lastname: Wagner
authors.forename: F
authors.initials: F
authors.lastname: Pletschacher
authors.forename: H
authors.initials: H
authors.lastname: Hintner
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001317:Austria; D007644:Darier Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D020033:Protein Isoforms / Q000235:genetics; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*
chemical_list: D020033:Protein Isoforms; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human