A recurrent de novo damaging variant in <i>EMP2</i> causes progressive symmetric erythrokeratoderma.

ABSTRACT: Genetic investigation in Mendelian skin disorders featuring generalized or localized skin scaling and redness, known as the ichthyoses, has revealed novel pathways relevant to epidermal integrity, barrier function, and desquamation. Here, we show that a recurrent de novo missense variant in EMP2 (epithelial membrane protein 2), which encodes a cell surface tetraspan protein in the growth-arrest specific 3 (GAS3)/peripheral myelin protein 22 (PMP22) family, is associated with a Mendelian skin disorder in the progressive symmetric erythrokeratoderma spectrum. The disorder features severely thickened, red, and scaly skin at sites of wound healing or repetitive movement including on the face, genitals, flexural areas, and the palms and soles. EMP2 has previously been shown to directly a

SUBMITTER: Jiang X 

PROVIDER: S-EPMC12358830 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature