A new mutation of the double-stranded RNA-specific adenosine deaminase gene in a family with dyschromatosis symmetrica hereditaria

Background. Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities and caused by mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene. Objective: To identify gene mutations of DSRAD in patients with DSH. Methods: A Chinese pedigree of typical DSH was subjected to mutation detection in DSRAD. Direct sequencing of all PCR products of the whole coding regions of DSRAD was performed to identify the mutation. Results:A missense mutation 2747G -> T in the DSRAD gene was found in the affected members but not in the healthy individuals in this family and in 50 unrelated controls. Conclusion: Our study found a novel missense mutation in exon 9 of the DSRAD gene. We add new variants to the knowledge of DSRAD mutations in DSH. Copyright (c) 2006 S. Karger AG, Basel.