Journal
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Volume 122, Issue 4, Pages 896-899Publisher
ELSEVIER SCIENCE INC
DOI: 10.1111/j.0022-202X.2004.22429.x
Keywords
double-stranded RNA-specific adenosine deaminase; dyschromatosis symmetrica hereditaria; linkage analysis; point mutation
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Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder. It is also called reticulate acropigmentation of Dohi or symmetric dyschromatosis of the extremities. The DSH locus has recently been mapped to chromosome 1q21 and pathogenic mutations were identified in the DSRAD gene encoding double-stranded RNA-specific adenosine deaminase in Japanese patients with DSH. We report here two novel point mutations, Q513X(1537C>T) and R916W(2746C>T) in the DSRAD gene identified in two Chinese families, respectively. These data suggest that mutations in DSRAD were also associated with DSH in Chinese. This is the first report on DSRAD as the causative gene of DSH in the Chinese population.
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