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

Sulaiman M. Al-Mayouf, Asma Sunker, Reem Abdwani, Safiya Al Abrawi, Fathiya Almurshedi, Nadia Alhashmi, Abdullah Al Sonbul, Wafaa Sewairi, Aliya Qari, Eiman Abdallah, Mohammed Al-Owain, Saleh Al Motywee, Hanan Al-Rayes, Mais Hashem, Hanif Khalak, Latifa Al-Jebali, Fowzan S. Alkuraya*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

182 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1186-1188
Number of pages3
JournalNature Genetics
Volume43
Issue number12
DOIs
Publication statusPublished - Dec 2011

ASJC Scopus subject areas

  • Genetics

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