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

@article{AlMayouf2011LossoffunctionVI,
  title={Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus},
  author={Sulaiman M Al-Mayouf and Asma Sunker and Reem Abdwani and Safiya Al Abrawi and Fathiya Almurshedi and Nadia Alhashmi and Abdullah Al Sonbul and Wafaa Mohammed Sewairi and Aliya Qari and Eiman Abdallah and Mohammed A. Al-Owain and Saleh Al Motywee and Hanan Al-Rayes and Mais Hashem and Hanif Khalak and Latifa Al-Jebali and Fowzan S Alkuraya},
  journal={Nature Genetics},
  year={2011},
  volume={43},
  pages={1186-1188}
}
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… CONTINUE READING
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Rheumatol. Int. (in the press). b r i e f c o m m u n i c at i o n s

S. Al-Mayouf, R. Abdwani, Al-Brawi, S. Rheumatol Int
  • Genet. Med
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