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

Research output: Contribution to journalArticle

175 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

Fingerprint Dive into the research topics of 'Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus'. Together they form a unique fingerprint.

  • Cite this

    Al-Mayouf, S. M., Sunker, A., Abdwani, R., Abrawi, S. A., Almurshedi, F., Alhashmi, N., Al Sonbul, A., Sewairi, W., Qari, A., Abdallah, E., Al-Owain, M., Al Motywee, S., Al-Rayes, H., Hashem, M., Khalak, H., Al-Jebali, L., & Alkuraya, F. S. (2011). Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nature Genetics, 43(12), 1186-1188. https://doi.org/10.1038/ng.975