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Arch Dermatol Res. 2007 Aug;299(5-6):273-5. Epub 2007 Jun 14.

A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria.

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  • 1Department of Dermatology, The Wuxi Second Affiliated Hospital of Nanjing Medical University, Wuxi, Jiangsu 214002, China.


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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