Abstract
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 extremities. Pathogenic mutations in the DSRAD gene have been identified. In this report, we identified a Chinese family with a three-generation pedigree of DSH, in which a novel heterozygous nucleotide G→A transition was found. It is at position 3,125 in exon 12 of the DSRAD gene which induces a R1042H change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH.
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Acknowledgments
This work was funded by grants from Technology Development Found of Nanjing Medical University (NY0580). We are most grateful to all members of the family for participating in this study.
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Li, M., Yang, LJ., Shi, YX. et al. A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria. Arch Dermatol Res 299, 273–275 (2007). https://doi.org/10.1007/s00403-007-0762-9
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DOI: https://doi.org/10.1007/s00403-007-0762-9