Two Novel Splice Site Mutations of the DSRAD Gene in Chinese Families with Dyschromatosis Symmetrica Hereditaria

Objective To identify the mutation of the DSRAD gene in two families with DSH.Methods Blood samples were collected from the patients and healthy members of two families.All 15 exons of the DSRAD gene were analyzed by PCR-DNA sequencing.Results Two novel splice site mutations (c.2271-3AG,c.3202+5GA) were identified in two families,but was not found in healthy members and 100 unrelated individuals.Conclusion Two novel splice site mutations in the DSRAD gene have been detected in 2 DSH families,they may alter the canonical splice acceptor sequence of IVS6 and splice donor sequence of IVS12,thereby should prevent proper splicing of the transcript.