Identification of a novel DSRAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria

Authors

  • M. Li,

    1. Departments of Dermatology, Wuxi Second Affiliated Hospital of Nanjing Medical University and, Wuxi No.2 People’s Hospital, Wuxi, Jiangsu, China
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  • L.-J. Yang,

    1. Departments of Dermatology, Wuxi Second Affiliated Hospital of Nanjing Medical University and, Wuxi No.2 People’s Hospital, Wuxi, Jiangsu, China
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  • X.-H. Zhu

    1. Departments of Dermatology, Wuxi Second Affiliated Hospital of Nanjing Medical University and, Wuxi No.2 People’s Hospital, Wuxi, Jiangsu, China
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  • Conflict of interest: none declared.

Dr Ming Li, Department of Dermatology, Wuxi No.2 People’s Hospital, 68 Zhongshan Road, Wuxi, Jiangsu, 214002, China.
E-mail: aypyslm@163.com

Summary

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the limbs. Genetic studies have identified mutations in the DSRAD gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. In this study, we identified a novel mutation of DSRAD gene in a Chinese family with DSH. The mutation is a novel heterozygous nucleotide T→C transition at position 3617 in exon 15 of the DSRAD gene, which induces a M1206T change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH.

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