atrichia with papular lesions,HR gene,Sanger sequencing ,"/> Mutation analysis of hairless gene in one patient with atrichia and papular lesions

China Journal of Leprosy and Skin Diseases ›› 2020, Vol. 36 ›› Issue (1): 13-15.doi: 10.12144/zgmfskin202001013

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Mutation analysis of hairless gene in one patient with atrichia and papular lesions

LIU Weiying1, GAO Guiyun1, ZHENG Luyao2, LI Ming2   

  1. 1 Department of Dermatology, Hunan Aerospace Hospital, Changsha 410205, China; 2 Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
  • Online:2020-01-15 Published:2020-03-16
  • Contact: LIU Weiying, E-mail: ww00100@163.com；LI Ming, E-mail: aypyslm@163.com

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Abstract: Objective: To detect the Hairless (HR) gene mutation in one child affected with atrichia with papular lesions (APL). Methods: DNA was extracted from the child and her unaffected parents. HR gene mutations were detected by Sanger sequencing. Results: Compound heterozygous mutations of  HR gene were identified in the patient, including a novel frame shift mutation in exon 10, c.2270delC, and a novel missense mutation in exon 15, c.3038 T>C. Both of the mutations were not found in 100 unrelated controls. Conclusion: The HR mutations may result in the loss of  HR protein function, leading to APL.

Key words: atrichia with papular lesions')">

atrichia with papular lesions, HR gene, Sanger sequencing