Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease

Kana Noda, Takuya Takeichi, Yusuke Okuno, Hiromichi Takama, Shunsuke Miura, Shinji Kagami, Haruko Hino, Yuki Nakamura, Yumi Fujio, Izumi Konohana, Ayako Otani, Hideki Mukai, Kazumitsu Sugiura, Masashi Akiyama

Research output: Contribution to journalArticle

2 Citations (Scopus)

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 in ATP2A2, which is expressed in both the skin and the brain. ATP2A2 encodes 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 in ATP2A2 causes 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 in ATP2A2, including a previously unreported mutation. We observed no apparent genotype/ phenotype correlation between types and sites of the ATP2A2 mutations and DD phenotypes in the present series of DD patients. Genetic diagnosis from ATP2A2 mutation 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 the ATP2A2 mutation analysis in DD patients.

Original languageEnglish
Pages (from-to)485-492
Number of pages8
JournalNagoya journal of medical science
Volume78
Issue number4
DOIs
Publication statusPublished - 01-01-2016

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Darier Disease
Mutation
Skin
Genetic Databases
Muscle Proteins
Genetic Association Studies
Cell Adhesion
Myocardium
Calcium
Phenotype
Brain

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Noda, K., Takeichi, T., Okuno, Y., Takama, H., Miura, S., Kagami, S., ... Akiyama, M. (2016). Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease. Nagoya journal of medical science, 78(4), 485-492. https://doi.org/10.18999/nagjms.78.4.485
Noda, Kana ; Takeichi, Takuya ; Okuno, Yusuke ; Takama, Hiromichi ; Miura, Shunsuke ; Kagami, Shinji ; Hino, Haruko ; Nakamura, Yuki ; Fujio, Yumi ; Konohana, Izumi ; Otani, Ayako ; Mukai, Hideki ; Sugiura, Kazumitsu ; Akiyama, Masashi. / Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease. In: Nagoya journal of medical science. 2016 ; Vol. 78, No. 4. pp. 485-492.
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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 in ATP2A2, which is expressed in both the skin and the brain. ATP2A2 encodes 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 in ATP2A2 causes 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 in ATP2A2, including a previously unreported mutation. We observed no apparent genotype/ phenotype correlation between types and sites of the ATP2A2 mutations and DD phenotypes in the present series of DD patients. Genetic diagnosis from ATP2A2 mutation 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 the ATP2A2 mutation analysis in DD patients.",
author = "Kana Noda and Takuya Takeichi and Yusuke Okuno and Hiromichi Takama and Shunsuke Miura and Shinji Kagami and Haruko Hino and Yuki Nakamura and Yumi Fujio and Izumi Konohana and Ayako Otani and Hideki Mukai and Kazumitsu Sugiura and Masashi Akiyama",
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Noda, K, Takeichi, T, Okuno, Y, Takama, H, Miura, S, Kagami, S, Hino, H, Nakamura, Y, Fujio, Y, Konohana, I, Otani, A, Mukai, H, Sugiura, K & Akiyama, M 2016, 'Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease', Nagoya journal of medical science, vol. 78, no. 4, pp. 485-492. https://doi.org/10.18999/nagjms.78.4.485

Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease. / Noda, Kana; Takeichi, Takuya; Okuno, Yusuke; Takama, Hiromichi; Miura, Shunsuke; Kagami, Shinji; Hino, Haruko; Nakamura, Yuki; Fujio, Yumi; Konohana, Izumi; Otani, Ayako; Mukai, Hideki; Sugiura, Kazumitsu; Akiyama, Masashi.

In: Nagoya journal of medical science, Vol. 78, No. 4, 01.01.2016, p. 485-492.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease

AU - Noda, Kana

AU - Takeichi, Takuya

AU - Okuno, Yusuke

AU - Takama, Hiromichi

AU - Miura, Shunsuke

AU - Kagami, Shinji

AU - Hino, Haruko

AU - Nakamura, Yuki

AU - Fujio, Yumi

AU - Konohana, Izumi

AU - Otani, Ayako

AU - Mukai, Hideki

AU - Sugiura, Kazumitsu

AU - Akiyama, Masashi

PY - 2016/1/1

Y1 - 2016/1/1

N2 - 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 in ATP2A2, which is expressed in both the skin and the brain. ATP2A2 encodes 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 in ATP2A2 causes 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 in ATP2A2, including a previously unreported mutation. We observed no apparent genotype/ phenotype correlation between types and sites of the ATP2A2 mutations and DD phenotypes in the present series of DD patients. Genetic diagnosis from ATP2A2 mutation 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 the ATP2A2 mutation analysis in DD patients.

AB - 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 in ATP2A2, which is expressed in both the skin and the brain. ATP2A2 encodes 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 in ATP2A2 causes 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 in ATP2A2, including a previously unreported mutation. We observed no apparent genotype/ phenotype correlation between types and sites of the ATP2A2 mutations and DD phenotypes in the present series of DD patients. Genetic diagnosis from ATP2A2 mutation 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 the ATP2A2 mutation analysis in DD patients.

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