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Genetic diagnosis in a Chinese Hailey–Hailey disease pedigree with novel ATP2C1 gene mutation

Archives of Dermatological Research volume 300, pages 203–207 (2008)Cite this article

Abstract

Hailey–Hailey disease (HHD) is an autosomal dominant skin disorder characterized by recurrent eruption of vesicles and bullae at the sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene encoding the human secretory pathway calcium ATPase 1 (hSPCA1) have been identified as the causative mutations in HHD. In this study, we used direct sequencing and restriction endonuclease digestion to analyze mutations of the ATP2C1 gene in a Chinese three-generation pedigree. A heterozygous T-to-C transition at nucleotide 1004 in exon 12 of ATP2C1 gene was detected. After summarizing the reported cases with ATP2C1 mutation, we concluded that the T1004C transition resulted in a novel missense mutation of leucine condon (CTG) to proline (CCG) at amino acid residue 335(L335P) in hSPCA1. Here, a genetic diagnosis was made for the proband’s daughter before the clinical presentation. The study realized the molecular diagnosis in the HHD pedigree. Our findings should be useful for genetic counseling and prenatal diagnosis for the affected family and in demonstrating the critical role of the ATP2C1 gene in the pathogenesis of HHD further.

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Acknowledgments

This work was funded by a grant from the Chinese High Tech Program (863) (2003AA227031). We appreciate the interest and participation of the family members in this study.

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Affiliations

  1. Department of Dermatology, The Second Affiliated Hospital of Harbin Medical University, 246 Xuefu Road, Harbin, Heilongjiang, 150086, China

    Yue-Mei Ma, Lie Ma & Yu-Zhen Li

  2. Institute of Dermatology and Department of Dermatology, First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China

    Xue-Jun Zhang, Yan-Hua Liang, Liang-Dan Sun, Fu-Sheng Zhou, Qiao-Yun Fang, Min Gao & Sen Yang

  3. The Key Laboratory of Gene Resource Utilization for Genetic Diseases, Ministry of Education and Anhui Province, Hefei, Anhui, China

    Yue-Mei Ma, Xue-Jun Zhang, Yan-Hua Liang, Liang-Dan Sun, Fu-Sheng Zhou, Qiao-Yun Fang, Min Gao & Sen Yang

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  1. Yue-Mei Ma
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  2. Xue-Jun Zhang
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  3. Yan-Hua Liang
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  4. Lie Ma
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  7. Qiao-Yun Fang
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  8. Min Gao
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  9. Sen Yang
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  10. Yu-Zhen Li
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Correspondence to Yu-Zhen Li.

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Ma, YM., Zhang, XJ., Liang, YH. et al. Genetic diagnosis in a Chinese Hailey–Hailey disease pedigree with novel ATP2C1 gene mutation. Arch Dermatol Res 300, 203–207 (2008). https://doi.org/10.1007/s00403-008-0834-5

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  • DOI: https://doi.org/10.1007/s00403-008-0834-5

Keywords

  • Mutation
  • ATP2C1
  • Hailey–Hailey disease (HHD)
  • RFLP