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Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
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Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
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Journal Article
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
2011
Overview
Fowzan Alkuraya and colleagues report the identification of a truncating mutation in
DNASE1L3
in six families with an autosomal recessive Mendelian form of systemic lupus erythematosus, a complex autoimmune disease.
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Child
/ DNA
/ Endodeoxyribonucleases - genetics
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Genes
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Heredity
/ Humans
/ Lupus
/ Lupus Erythematosus, Systemic - genetics
/ Male
/ Mutation
/ Studies
