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

Authors

  • M. Li,

    1. Institute of Dermatology & Department of Dermatology at no. 1 Hospital, Anhui Medical University, Hefei
    2. Chinese National Human Genome Center at Shanghai
    3. Key Laboratory of Genome Research at Anhui, Hefei
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  • Y. X. Jiang,

    1. Department of Dermatology at the fifth hospital of Jinhua, Zhejiang, China
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  • J. B. Liu,

    1. Institute of Dermatology & Department of Dermatology at no. 1 Hospital, Anhui Medical University, Hefei
    2. Key Laboratory of Genome Research at Anhui, Hefei
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  • S. Yang,

    1. Institute of Dermatology & Department of Dermatology at no. 1 Hospital, Anhui Medical University, Hefei
    2. Key Laboratory of Genome Research at Anhui, Hefei
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  • P. P. He,

    1. Institute of Dermatology & Department of Dermatology at no. 1 Hospital, Anhui Medical University, Hefei
    2. Key Laboratory of Genome Research at Anhui, Hefei
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  • M. Gao,

    1. Institute of Dermatology & Department of Dermatology at no. 1 Hospital, Anhui Medical University, Hefei
    2. Key Laboratory of Genome Research at Anhui, Hefei
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  • S. C. Wei,

    1. Institute of Dermatology & Department of Dermatology at no. 1 Hospital, Anhui Medical University, Hefei
    2. Key Laboratory of Genome Research at Anhui, Hefei
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  • K. L. Yan,

    1. Institute of Dermatology & Department of Dermatology at no. 1 Hospital, Anhui Medical University, Hefei
    2. Key Laboratory of Genome Research at Anhui, Hefei
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  • W. Huang,

    1. Chinese National Human Genome Center at Shanghai
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  • X. J. Zhang

    1. Institute of Dermatology & Department of Dermatology at no. 1 Hospital, Anhui Medical University, Hefei
    2. Key Laboratory of Genome Research at Anhui, Hefei
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X. J. Zhang, Institute of Dermatology, Anhui Medical University, 69 Meishan Road, Hefei, Anhui, 230032, People's Republic of China. Tel.: +86 551 516 1002. Fax: +86 551 516 1016.
E-mail: ayzxj@mail.hf.ah.cn

Summary

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucleotide A→G transition at position 2879 in exon 10 of the DSRAD gene was detected.

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