Genetic advances in dyschromatosis universalis hereditaria

Abstract

Dyschromatosis universalis hereditaria (DUH) is inherited mainly in an autosomal dominant manner, sometimes in an autosomal recessive manner. In recent years, great progress has been made in molecular genetics of DUH. Three pathogenic genetic loci have been reported to be associated with DUH, including 6q24.2-q25.2, 12q21-q23 and 2q35. The ATP-binding cassette, sub-family B, member 6 (ABCB6) gene at 2q35 has been identified as a pathogenic gene for DUH by gene function analysis. Immunohistochemical studies showed that anti-ABCB6 antibodies were diffusely distributed in the cytoplasm of epithelial cells, Western blot analysis revealed that ABCB6 was expressed in melanocytes and keratinocytes, and zebrafish assays demonstrated that ABCB6 played an important role in pigment metabolism. By now, 8 mutations of the ABCB6 gene have been reported in patients with DUH, including 1 frameshift mutation and 7 missense mutations. Key words: Cytogenetics; Genes, ABCB6; Mutation; Genetic heterogeneity; Dyschromatosis universalis hereditaria