Systemic lupus erythematosus overlapping dermatomyositis owing to a heterozygous TREX1 Asp130Asn missense mutation

The 3′ repair exonuclease 1 (TREX1) gene encodes a nuclear protein with activity, and the mutations have been associated autoimmune diseases. Herein, we performed genetic analysis for TREX1 in 55 patients systemic lupus erythematosus (SLE). We identified one SLE patient overlapping dermatomyositis having heterozygous p.Asp130Asn mutation gene. had high level of serum interferon (IFN)-α compared that healthy controls other SLE. In addition, expressed elevated IFN signature genes controls. Our molecular dynamics simulation complex double-stranded DNA revealed D130N mutant causes significant changes active site's interaction network. One our cases exhibited contributed to type I pathway, which may lead development severe phenotype.