Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis.

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by mottled hyperpigmented and hypopigmented macules.SASH1andABCB6have been identified as the causative genes for this disorder. We performed whole exome sequencing on a Chinese family with DUH and genotype-phenotype correlation analysis in DUH and lentiginous phenotype patients. A novel heterozygous missense mutation p.Q518P inSASH1gene was detected in this family. A majority of patients withSASH1mutations presented as a distinct clinical phenotype clearly different from that in patients withABCB6mutations. Our findings further enrich the reservoir ofSASH1mutations in DUH. The clinical phenotypic difference betweenSASH1andABCB6variants is suggestive of a close phenotype-genotype link in DUH.