Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.

ABSTRACT:

Objective

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a complex immune disorder consequence of somatic UBA1 variants. Most reported pathogenic UBA1 variants are missense or splice site mutations directly impairing the translational start site at p.Met41, with recent studies showing that these variants are frequent causes of recurrent inflammation in older individuals. Here we aimed to characterize a novel UBA1 variant found in two patients clinically presenting with VEXAS syndrome.

Methods

Patients' data were collected from direct assessments and from their medical charts. Genomics analyses were undertaken by both Sanger and amplicon-based deep sequencing, and mRNA studies were undertaken by both cDNA subcloning and mRNA sequencing.

Result

SUBMITTER: Ospina Cardona D 

PROVIDER: S-EPMC11443021 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature