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Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by mottled hyperpigmented and hypopigmented macules.  SASH1  and  ABCB6  have 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 in  SASH1  gene was detected in this family. A majority of patients with  SASH1  mutations presented as a distinct clinical phenotype clearly different from that in patients with  ABCB6  mutations. Our findings further enrich the reservoir of  SASH1  mutations in DUH. The clinical phenotypic difference between  SASH1  and  ABCB6  variants is suggestive of a close phenotype-genotype link in DUH.

frontiers in genetics

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