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.

• Tác giả: Afra Al Dhaheri, Fatema Al Shibli, Hiba Alblooshi, Sara Alhmoudi, Najla Aljaberi, Fatma Aljasmi, Mushal Allam, Ibrahim Baydoun, Anjali Bharathan, Remya Prajesh Gopal, Praseetha Kizhakkedath, Ekhlass Mohammed, Noor Mustafa, Mohammed Tabouni
• Ngôn ngữ: eng
• Thông tin xuất bản: England : Lupus science & medicine , 2025
• Bộ sưu tập: NCBI
• ID: 55530

Tóm tắt

 OBJECTIVES: To evaluate the functional impact of a novel METHODS: Whole-exome sequencing was performed on affected patients and findings were confirmed using Sanger sequencing in family members. DNASE1L3 protein expression, secretion and enzymatic activity were assessed in HEK293 cell lines. Plasma smear assay for neutrophil extracellular traps (NETs) was evaluated in patients, family members and healthy control. RESULTS: A total of seven patients diagnosed with both SLE and HUV were identified from three unrelated families. All affected individuals were found to carry a homozygous c.572A>
 G, p.Asn191Ser (191S) variant in CONCLUSIONS: We functionally evaluated the effect of a novel