Autoinflammatory & rare systemic diseases
Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome
Authors' conclusion
Genetic screening with the combination of regular PCR and PNA-PCR detected somatic UBA1 variants with high sensitivity and specificity. Our scoring system could efficiently predict patients with UBA1 variants.
Study context
- Population
- Japanese patients with clinically suspected VEXAS syndrome (81 males, 8 females; median age of onset 69.3 years, IQR 62.1–77.6)
- Participants
- 89 patients
- Outcome
- Detection of pathogenic somatic UBA1 variants (PNA-PCR, regular PCR of exon 3, Sanger sequencing) and prediction of variant-positive patients by clinical scoring system
Methodological detailsROC curve analysis
- ROC curve analysis
Performance
As reported in the abstract
Patients with reported pathogenic UBA1 variants
Patients with reported pathogenic UBA1 variants identified
40
44.9%
Lowest variant allele frequency (VAF) detected with highly sensitive method
1.7%
Clinical scoring system AUC for scoring total
0.908
Original publication
Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome. Rheumatology (Oxford). Published 22 August 2023. doi:10.
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