title: Novel and recurrentATP2A2mutations in Japanese patients with Darier's disease.
abstract: Darier's disease (DD, keratosis follicularis: OMIM#124200) is an autosomal dominant skin disorder characterized by multiple dark brown keratotic plaques and warty papules covered by thick crusts. Most cases of DD are caused by mutations inATP2A2, which is expressed in both the skin and the brain.ATP2A2encodes the cardiac muscle SERCA2a protein and the ubiquitously expressed SERCA2b. SERCA2 plays an important role as a calcium pump. It is thought that a mutation inATP2A2causes dyskeratosis and abnormality of cell-cell adhesion. Here, we report five DD patients from five independent families who presented or were referred to the Nagoya University Hospital in the past five years. We detected five mutations inATP2A2,including a previously unreported mutation. We observed no apparent genotype/phenotype correlation between types and sites of theATP2A2mutations and DD phenotypes in the present series of DD patients. Genetic diagnosis fromATP2A2mutation search is useful for the definite diagnosis of DD, although it is difficult to predict the severity and prognosis of skin symptoms from the results of theATP2A2mutation analysis in DD patients.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Kana
authors.initials: K
authors.lastname: Noda
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Takeichi
authors.affiliation: Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Okuno
authors.affiliation: Takama Dermatology Clinic, Kasugai, Japan.
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Takama
authors.affiliation: Department of Dermatology, Kanto Central Hospital, Tokyo, Japan.
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Miura
authors.affiliation: Department of Dermatology, Kanto Central Hospital, Tokyo, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Kagami
authors.affiliation: Department of Dermatology, Kanto Central Hospital, Tokyo, Japan.
authors.forename: Haruko
authors.initials: H
authors.lastname: Hino
authors.affiliation: Department of Dermatology, Hiratsuka Municipal Hospital, Hiratsuka, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Nakamura
authors.affiliation: Department of Dermatology, Hiratsuka Municipal Hospital, Hiratsuka, Japan.
authors.forename: Yumi
authors.initials: Y
authors.lastname: Fujio
authors.affiliation: Department of Dermatology, Hiratsuka Municipal Hospital, Hiratsuka, Japan.
authors.forename: Izumi
authors.initials: I
authors.lastname: Konohana
authors.affiliation: Department of Dermatology, Toho University Ohashi Medical Center, Tokyo, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Otani
authors.affiliation: Department of Dermatology, Toho University Ohashi Medical Center, Tokyo, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Mukai
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Dermatology, Fujita Health University School of Medicine, Toyoake, Japan.
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Sugiura
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
keywords: ATP2A2; Darier’s disease; SERCA2; genotype/phenotype correlation; mutation