Monogenic systemic lupus erythematosus associated with DNASE1 gene mutation: a case report and literature review

Abstract

A retrospective analysis of the clinical features and genetic test results of a child with monogenic systemic lupus erythematosus (SLE) associated with a mutation in the deoxyribonuclease 1 (DNASE1) gene who presented to the First People's Hospital of Jingzhou City, Hubei Province in July 2021. The child was a female, 1 year and 5 months old, with recurrent fever, facial erythema, lupus-like rash on the trunk, positive for anti-nuclear and anti-Sm antibodies, and whole exon sequencing results suggested that the SLE susceptibility gene DNASE1, chr16:3705860, had a G>A mutation at locus c.158, and generation sequencing family verification presumed that the heterozygous mutation originated from the mother. This mutation has not been reported in China and expands the spectrum of pathogenic variants in SLE in China