Loss-of-function Variant in DNASE1L3 Causes a Familial Form of Systemic Lupus Erythematosus

Overview

Journal Nat Genet

Specialty Genetics

Date 2011 Oct 25

PMID 22019780

Citations 230

Authors

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

Affiliations

Soon will be listed here.

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.

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