Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype–phenotype correlation in a large Chinese family with Darier’s disease

Authors

  • Feng-Yan Lu MBBS,

    1. Department of Dermatology, the First People’s Hospital of Qujing City, Qujing, Yunnan
    2. Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan
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    • These authors contributed equally to this work.

  • Ling Xu BS,

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan
    2. Graduate School of the Chinese Academy of Sciences, Beijing
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    • These authors contributed equally to this work.

  • Xun-Guo Yin MSc,

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan
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  • Ping Wan MD,

    1. Department of Dermatology, the First Affiliated Hospital of Kunming Medical College, Kunming, Yunnan, China
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  • Xiao-De Zhang MBBS,

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan
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  • Wei-Wen Chen MBBS,

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan
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  • Shao-Ping Ding MBBS,

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan
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  • Yong-Gang Yao PhD

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan
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  • Conflicts of interest: None.

Dr. Yong-Gang Yao, phd
Key Laboratory of Animal Models
and Human Disease Mechanisms
Kunming Institute of Zoology
Chinese Academy of Sciences
Kunming, Yunnan 650223
China
E-mail: ygyaozh@gmail.com

Abstract

Darier’s disease (DD, MIM 124200) is an autosomal dominant inherited skin disease. Mutations in the ATP2A2 gene, which encoded the sarcoplasmic/endoplasmic reticulum Ca2+-ATPase isoform 2 (SERCA2), are responsible for this skin disorder. Here we report the clinical, genetic, and molecular characterization of a large Chinese family with DD. We identified mutation c.632G>A (p.G211D) in the ATP2A2 gene in this family. Genotype–phenotype correlation in available family members provided helpful genetic counseling information for mutation carriers.

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