Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Nat Genet. 2011 Oct 23;43(12):1186-8. doi: 10.1038/ng.975.

Abstract

Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene. The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of impaired clearance of degraded DNA in SLE pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Consanguinity
  • Endodeoxyribonucleases / genetics*
  • Female
  • Genetic Association Studies
  • Heredity
  • Homozygote
  • Humans
  • Lod Score
  • Lupus Erythematosus, Systemic / genetics*
  • Male
  • Sequence Deletion*
  • Young Adult

Substances

  • DNASE1L3 protein, human
  • Endodeoxyribonucleases