Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria.

ABSTRACT:

Background

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.

Methods

Sanger sequencing was performed to investigate the clinical manifestation and molecular genetic basis of these familial cases of DUH, bioinformatics tools and multiple sequence alignment were used to analyse the pathogenicity of mutations.

Results

A novel missense mutation, c.1529G>A, in the SASH1 gene was identified, and this mutation was not found in the National Center for Biotechnology Information Database of Short Genetic Var

SUBMITTER: Cao L 

PROVIDER: S-EPMC8236144 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature