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Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review

Authors

  • Jianqiang Yang MD, PhD,

    1. Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China
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  • Yanhua Liang MD, PhD,

    Corresponding author
    1. Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China
    • Correspondence

      Y. Liang, md, phd

      Department of Dermatology

      Nanfang Hospital, Southern Medical University

      Guangzhou, Guangdong 510515, China

      E-mail: liangdoctor@163.com

      M. Zheng, md, phd

      Department of Dermatology,

      Second Affiliated Hospital, Zhejiang University School of Medicine,

      Hangzhou, Zhejiang 310009, China

      Email: yjq@hutc.aj.cn

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  • Kang Zeng MD,

    1. Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China
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  • Liang Huang MD,

    1. Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China
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  • Min Zheng MD, PhD

    Corresponding author
    1. Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China
    • Correspondence

      Y. Liang, md, phd

      Department of Dermatology

      Nanfang Hospital, Southern Medical University

      Guangzhou, Guangdong 510515, China

      E-mail: liangdoctor@163.com

      M. Zheng, md, phd

      Department of Dermatology,

      Second Affiliated Hospital, Zhejiang University School of Medicine,

      Hangzhou, Zhejiang 310009, China

      Email: yjq@hutc.aj.cn

    Search for more papers by this author

  • Financial support: This work was supported by the National Natural Science Foundation of China (30972643,81171627).
  • Conflicts of interest: None.

Abstract

Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of genetic hair loss. U2HR gene dysfunction has been identified as the pathogenic change of this disease. Herein we present a four-generation Chinese family of 15 patients carrying MUHH, and detected a recurrent missense mutation in U2HR gene, c.74C>T (p.P25L), previously reported in a Jewish Ashkenazi MUHH family. The literature review concluded that there were 16 mutations of the U2HR gene in patients with MUHH of different origins, and indicated two mutation hot spots (amino acids 1–7 and 24–28) but no clear genotype–phenotype correlations.

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