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A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family

Authors

  • H. J. Wang,

    1. Department of Dermatology, Peking University First Hospital, Beijing, China
    2. Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
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  • Z. M. Lin,

    Corresponding author
    1. Department of Dermatology, Peking University First Hospital, Beijing, China
    2. Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
    • Correspondence: Dr Zhimiao Lin, Department of Dermatology, Peking University First Hospital, 8 Xishiku Street, Beijing, 100034, China

      E-mail: zhimiaolin@bjmu.edu.cn

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  • J. Zhang,

    1. Department of Dermatology, Peking University First Hospital, Beijing, China
    2. Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
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  • J. H. Yin,

    1. Department of Dermatology, Peking University First Hospital, Beijing, China
    2. Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
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  • Y. Yang

    1. Department of Dermatology, Peking University First Hospital, Beijing, China
    2. Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
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  • Conflict of interest: none declared.

Summary

Diffuse cutaneous mastocytosis (DCM) is an extremely rare disease characterized by massive proliferation of mast cells infiltrating the entire skin. We report a Chinese family with indolent DCM, and detection of a new germline KIT mutation located in the fifth immunoglobulin-like loop of the KIT protein, which probably results in a gain-of-function effect and consequent overactivation of mast cells. Our report expands the knowledge of correlations between the genotype of KIT mutations and the phenotype of DCM.

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