Autoinflammatory & rare systemic diseases
Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome
Authors' conclusion
Here we describe 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.
Study context
- Population
- Two unrelated adult male patients with late-onset, unexplained inflammatory manifestations clinically presenting with VEXAS syndrome
- Participants
- 2 unrelated adult males
- Outcome
- Characterisation of novel UBA1 variant
Methodological detailsSanger and amplicon-based deep sequencing, cDNA subcloning and mRNA sequencing
- Sanger and amplicon-based deep sequencing
- cDNA subcloning and mRNA sequencing
Main finding
As reported in the abstract
- Novel somatic variant in a canonical splice site of UBA1 (c.346-2A>G)
- Clinical features: recurrent fever, Sweet syndrome-like neutrophilic dermatosis, lung inflammation responsive only to GC
- Aberrant mRNA splicing leading to multiple in-frame transcripts, incl. one retaining the full sequence of intron 4 and one with deletion of the first 15 nucleotides of exon 5
Original publication
Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome. Rheumatology (Oxford). Published 29 March 2024. doi:10.
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