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

Daniela Ospina CardonaIgnasi Rodriguez-PintoSonia IosimNuria BonetAnna Mensa-VilaroMei-Kay WongGary HoMarc TormoJordi YagüeWonwoo ShonDaniel WallaceFerran CasalsDavid B BeckRachel AbuavJuan Ignacio Aróstegui

Published in: Rheumatology (Oxford, England) (2024)

Here we describe the abnormal UBA1 transcription as a consequence of the novel c.346-2A>G variant identified in two patients with clinical features compatible with VEXAS syndrome. Overall, these results further demonstrate the expanding spectrum of variants in UBA1 leading to pathology and support for a complete gene evaluation in those candidate patients for VEXAS syndrome.

Keyphrases

copy number
end stage renal disease
case report
ejection fraction
newly diagnosed
peritoneal dialysis
gene expression
patient reported