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Identification a novel missense mutation p.R761L in Chinese patients with Darier’s disease

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Abstract

Darier’s disease (DD, MIM 124200) is an autosomal dominant inherited disease. It is usually present in teenagers or adults with multiple keratotic papules or plaques in seborrheic areas. Pathogenic mutations in the ATP2A2 gene have been identified. It encodes the sarcoplasmic or endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2). Polymerase chain reaction and direct sequencing of the full coding sequence of ATP2A2 gene were performed to identify the mutation in this family. In this report, we identified a novel mutation of ATP2A2 gene in a Chinese family with DD. It is a novel heterozygous nucleotide G → T transition at position 2,282 in exon 15 of the ATP2A2 gene. Our study expands the database on the ATP2A2 gene mutations in DD.

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Acknowledgments

We are most grateful to all members of family for participating in this study. We would like to express our thanks to Tao Yang and Yingmin Liu for their help.

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Authors and Affiliations

  1. Department of Dermatology, Wuxi No. 4 People’s Hospital, The Fourth Affiliated Hospital of Soochow University, Wuxi, 214062, Jiangsu, China

    Jun Song

  2. Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665, Kongjiang Road, Shanghai, 200092, China

    Ming Li

  3. Department of Dermatology, Affiliated Wuxi No. 2 Hospital, Nanjing Medical University, Wuxi, 214002, Jiangsu, China

    Ming Li & Li-Jia Yang

  4. Department of Dermatology, Wuxi No. 2 People’s Hospital, Wuxi, 214002, Jiangsu, China

    Ming Li & Li-Jia Yang

  5. Department of Dermatology, Wuxi People’s Hospital, Wuxi, 214002, Jiangsu, China

    Guo-Long Zhang

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  1. Jun Song
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  2. Ming Li
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  3. Li-Jia Yang
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Correspondence to Ming Li.

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Song, J., Li, M., Yang, LJ. et al. Identification a novel missense mutation p.R761L in Chinese patients with Darier’s disease. Arch Dermatol Res 302, 311–314 (2010). https://doi.org/10.1007/s00403-010-1042-7

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  • DOI: https://doi.org/10.1007/s00403-010-1042-7

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