Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma.

ABSTRACT:

Background

Epidermal differentiation disorders [EDDs; ichthyosis and palmoplantar keratoderma (PPK)] are heritable skin conditions characterized by localized or generalized skin scaling and erythema.

Objectives

To identify novel genetic variants that cause PPK and progressive symmetric erythrokeratoderma (PSEK) phenotypes.

Methods

We performed whole-exome sequencing in a large cohort of people with EDD, including PPK and PSEK phenotypes, to identify novel genetic variants. We investigated the variant consequence using in silico predictions, assays in patient keratinocytes, high-resolution spatial transcriptomics and quantitative cytokine profiling.

Results

We identified three unrelated kindreds with autosomal dominant transmission of heterozygous SLURP1 variant

SUBMITTER: Jiang X 

PROVIDER: S-EPMC12036768 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature