Novel Missense Mutation of SASH1 in a Chinese Family with Dyschromatosis Universalis Hereditaria

Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causative mutations in a Chinese family with DUH.

Sanger sequencing was performed to investigate the clinical manifestation and molecular genetic basis of these familial members of DUH.  III5, III6, III9, III11,II4,II3,II9 were referred to GL01- GL06 in file respectively. Bioinformatics tools and multiple sequence alignment were used to analyse the pathogenicity of mutations.We performed Sanger sequencing on all exons in the SASH1 gene of II3, after confirmed the disease-causing mutation, we tested the presence of the mutation in other individuals.