A Novel Mutation of DSRAD Gene with Dyschromatosis Symmetrical Hereditaria

Objective To identify DSRAD gene mutations in two families with dyschromatosis symmetrical hereditaria (DSH).Methods Blood samples were collected from the patients and healthy members of two families.All 15 exons and flanking sequences of the DSRAD gene were analyzed by PCR-DNA sequencing.Results We detected two heterozygous mutations within DSRAD gene,which include a heterozygous AC transversion at the second base of the 3′-acceptor splice site of intron 12 (c.3203-2AC,IVS12-2AC) and a frameshift mutation c.2433_2434delAG.The mutations were not detected in their unaffected family members and normal controls.Conclusions Two special missense mutations in DSRAD gene in two families of dyschromatosis symmetrica hereditaria were found.These mutations may impair DSRAD protein function,and as a consequence,cause skin dyschromatosis.