DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.

ABSTRACT:

Background

Singleton-Merten syndrome (SGMRT) is a rare immunogenetic disorder that variably features juvenile open-angle glaucoma (JOAG), psoriasiform skin rash, aortic calcifications and skeletal and dental dysplasia. Few families have been described and the genotypic and phenotypic spectrum is poorly defined, with variants in DDX58 (DExD/H-box helicase 58) being one of two identified causes, classified as SGMRT2.

Methods

Families underwent deep systemic phenotyping and exome sequencing. Functional characterisation with in vitro luciferase assays and in vivo interferon signature using bulk and single cell RNA sequencing was performed.

Results

We have identified a novel DDX58 variant c.1529A>T p.(Glu510Val) that segregates with disease in two families wi

SUBMITTER: Prasov L 

PROVIDER: S-EPMC8310534 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature