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 recently been identified. In this study, we report and identify the mutations of the DSRAD gene in two Chinese pedigrees with DSH. Two novel mutations in the functional domains of the DSRAD gene were identified and verified in two pedigrees. The c.3244A>G (H1075R) mutation was found in all patients but not in the healthy individuals from family A and c.3335_3336delAT (Y1112fs→1112X) mutation was found in three patients but not in the healthy family members from family B. Our data suggests that these two novel mutations in the DSRAD gene could cause DSH and add new variants to the repertoire of DSRAD mutations in DSH.
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We are most grateful to all members of Dyschromatosis symmetric hereditaria families for participating in this study.
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Ming Li and Chengrang Li contributed equally to this work.
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Li, M., Li, C., Hua, H. et al. Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria. Arch Dermatol Res 297, 196–200 (2005). https://doi.org/10.1007/s00403-005-0595-3
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DOI: https://doi.org/10.1007/s00403-005-0595-3