Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.

ABSTRACT:

Background

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hyper- and hypo-pigmented macules on the face, trunk, and extremities. The condition causes severe cosmetic problem which can lead to significant psychological distress to the patients and bear a negative impact on society. DUH is a condition with genetic heterogeneity. The SASH1 gene was recently identified as pathogenic genes in DUH patients.

Methods

Two families clinically diagnosed with dyschromatosis universalis hereditaria were enrolled. Whole-exome sequencing combined with Sanger sequencing and bioinformatics analysis was performed in the probands. MutationTaster, CADD, SIFT, PolyPhen-2, and LRT software, and The American College of Medical Genetics and Genomics Standards

SUBMITTER: Liu JW 

PROVIDER: S-EPMC8183922 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature