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

doi:10.1038/ng.975

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

191 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 language	English
Pages (from-to)	1186-1188
Number of pages	3
Journal	Nature Genetics
Volume	43
Issue number	12
DOIs	https://doi.org/10.1038/ng.975
Publication status	Published - Dec 2011

ASJC Scopus subject areas

Genetics

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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

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. / Al-Mayouf, Sulaiman M.; Sunker, Asma; Abdwani, Reem; Abrawi, Safiya Al; Almurshedi, Fathiya; Alhashmi, Nadia; Al Sonbul, Abdullah; Sewairi, Wafaa; Qari, Aliya; Abdallah, Eiman; Al-Owain, Mohammed; Al Motywee, Saleh; Al-Rayes, Hanan; Hashem, Mais; Khalak, Hanif; Al-Jebali, Latifa; Alkuraya, Fowzan S.

In: Nature Genetics, Vol. 43, No. 12, 12.2011, p. 1186-1188.

Research output: Contribution to journal › Article › peer-review

Al-Mayouf, SM, Sunker, A, Abdwani, R, Abrawi, SA, 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, FS 2011, 'Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus', Nature Genetics, vol. 43, no. 12, pp. 1186-1188. https://doi.org/10.1038/ng.975

Al-Mayouf, Sulaiman M. ; Sunker, Asma ; Abdwani, Reem ; Abrawi, Safiya Al ; Almurshedi, Fathiya ; Alhashmi, Nadia ; Al Sonbul, Abdullah ; Sewairi, Wafaa ; Qari, Aliya ; Abdallah, Eiman ; Al-Owain, Mohammed ; Al Motywee, Saleh ; Al-Rayes, Hanan ; Hashem, Mais ; Khalak, Hanif ; Al-Jebali, Latifa ; Alkuraya, Fowzan S. / Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. In: Nature Genetics. 2011 ; Vol. 43, No. 12. pp. 1186-1188.

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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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AU - Abrawi, Safiya Al

AU - Almurshedi, Fathiya

AU - Alhashmi, Nadia

AU - Al Sonbul, Abdullah

AU - Sewairi, Wafaa

AU - Qari, Aliya

AU - Abdallah, Eiman

AU - Al-Owain, Mohammed

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AU - Al-Rayes, Hanan

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

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