Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.

ABSTRACT:

Importance

VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic) syndrome is a disease with rheumatologic and hematologic features caused by somatic variants in UBA1. Pathogenic variants are associated with a broad spectrum of clinical manifestations. Knowledge of prevalence, penetrance, and clinical characteristics of this disease have been limited by ascertainment biases based on known phenotypes.

Objective

To determine the prevalence of pathogenic variants in UBA1 and associated clinical manifestations in an unselected population using a genomic ascertainment approach.

Design, setting, and participants

This retrospective observational study evaluated UBA1 variants in exome data from 163 096 participants within the Geisinger MyCode Co

SUBMITTER: Beck DB 

PROVIDER: S-EPMC10408261 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature