Identification of two novel Darier disease‑associated mutations in the ATP2A2 gene

Zheng,Libao; Jiang,Huili; Mei,Qin; Chen,Bin

doi:10.3892/mmr.2015.3605

August-2015 Volume 12 Issue 2

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August-2015 Volume 12 Issue 2

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Article Open Access

Identification of two novel Darier disease‑associated mutations in the ATP2A2 gene

Authors:
- Libao Zheng
- Huili Jiang
- Qin Mei
- Bin Chen
View Affiliations / Copyright

Affiliations: Department of Dermatology, Fuzhou Dermatology Hospital, Fuzhou, Fujian 350025, P.R. China, Department of Dermatology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China

Copyright: © Zheng et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
Pages: 1845-1849
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Published online on: April 9, 2015

https://doi.org/10.3892/mmr.2015.3605
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Abstract

Darier disease (DD) is an autosomal dominant inherited skin disorder, characterized by abnormal keratinization, loss of adhesion between epidermal cells, termed acantholysis, and the development of warty papules and plaques on the central trunk, forehead, scalp and flexures. These symptoms are often exacerbated by heat, sweating, sunburn and stress. Mutations in the ATP2A2 gene, encoding SERCA2, a calcium pump of the sarco/endoplasmic reticulum, are responsible for the disease. The aim of the present study was to investigate two pedigrees of DD and to examine the genetic mutations. DNA was extracted from peripheral blood, which was obtained from four patients with DD, 10 healthy individuals from the two families and 100 ethnicity‑matched control individuals, on which subsequent polymerase chain reaction amplification and direct automated DNA sequencing were performed. The results identified two novel missense mutations, p.R603I and p.G749 V. These mutations were not identified in the remaining ten healthy individuals in the same families or in any of the 100 controls. These mutations may contribute to the expanding database of ATP2A2 gene mutations in patients with DD.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Identification of two novel Darier disease‑associated mutations in the ATP2A2 gene

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