Lupus & antiphospholipid syndrome
Identification and functional characterisation of a novel DNASE1L3 variant (c.572A>G, p.Asn191Ser) in three Emirati families with systemic lupus erythematosus and hypocomplementaemic urticarial vasculitis
Authors' conclusion
This variant resulted in impaired secretion and enzymatic activity of DNASE1L3 along with increased NETosis in patients with homozygous genotype.
Study context
- Population
- Three unrelated Emirati families with SLE and hypocomplementaemic urticarial vasculitis (HUV), United Arab Emiratespatients with SLE and HUV, 3 families
- Participants
- 7 participants
- Comparison
- Homozygous 191S variant carriers vs heterozygous carriers and healthy control
- Outcome
- Effect of DNASE1L3 191S variant: secretion and enzymatic activity in HEK293 cells, and NET burden on plasma smear assay
Methodological detailswhole-exome sequencing, Sanger sequencing confirmation in family members, functional assays in HEK293 cell lines
- Whole-exome sequencing
- Sanger sequencing confirmation in family members
- Functional assays in HEK293 cell lines
Main finding
As reported in the abstract
- All 7 affected individuals carried a homozygous c.572A>G, p.Asn191Ser (191S) variant in DNASE1L3
- Variant 191S impacted the secretion and activity of DNASE1L3
- Homozygous 191S vs Heterozygous and healthy control: P = 0.0409
Original publication
Identification and functional characterisation of a novel DNASE1L3 variant (c.572A>G, p.Asn191Ser) in three Emirati families with systemic lupus erythematosus and hypocomplementaemic urticarial vasculitis. Lupus Sci Med. Published 13 February 2025. doi:10.
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