Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
| Autor: | Hanif Khalak, Safiya Al Abrawi, Nadia Al-Hashmi, Mais Hashem, Abdullah Al Sonbul, Eiman Abdallah, Saleh Al Motywee, Latifa Al-Jebali, Asma Sunker, Mohammed Al-Owain, Wafaa Sewairi, Reem Abdwani, Aliya Qari, Fowzan S. Alkuraya, Fathiya Al-Murshedi, Hanan Al-Rayes, Sulaiman M. Al-Mayouf |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Systemic disease Heredity Adolescent Lupus nephritis Consanguinity Biology Pathogenesis Young Adult immune system diseases Genetics medicine Humans Lupus Erythematosus Systemic skin and connective tissue diseases Child Genetic Association Studies Sequence Deletion Autoimmune disease Lupus erythematosus Endodeoxyribonucleases Homozygote medicine.disease Connective tissue disease Child Preschool Immunology Female Lod Score Anti-SSA/Ro autoantibodies |
| Zdroj: | Nature genetics. 43(12) |
| ISSN: | 1546-1718 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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