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

259 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
Externally published	Yes

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

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

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title = "Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus",

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.",

author = "Al-Mayouf, {Sulaiman M.} and Asma Sunker and Reem Abdwani and Abrawi, {Safiya Al} and Fathiya Almurshedi and Nadia Alhashmi and {Al Sonbul}, Abdullah and Wafaa Sewairi and Aliya Qari and Eiman Abdallah and Mohammed Al-Owain and {Al Motywee}, Saleh and Hanan Al-Rayes and Mais Hashem and Hanif Khalak and Latifa Al-Jebali and Alkuraya, {Fowzan S.}",

note = "Funding Information: We would like to thank the families for their participation and the Genotyping and Sequencing Core Facilities at King Faisal Specialist Hospital and Research Center for their technical help. This work is supported by a Dubai Harvard Foundation for Medical Research collaborative grant (FSA).",

year = "2011",

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doi = "10.1038/ng.975",

language = "English",

volume = "43",

pages = "1186--1188",

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AU - Al-Mayouf, Sulaiman M.

AU - Sunker, Asma

AU - Abdwani, Reem

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

AU - Al Motywee, Saleh

AU - Al-Rayes, Hanan

AU - Hashem, Mais

AU - Khalak, Hanif

AU - Al-Jebali, Latifa

AU - Alkuraya, Fowzan S.

N1 - Funding Information: We would like to thank the families for their participation and the Genotyping and Sequencing Core Facilities at King Faisal Specialist Hospital and Research Center for their technical help. This work is supported by a Dubai Harvard Foundation for Medical Research collaborative grant (FSA).

PY - 2011/12

Y1 - 2011/12

N2 - 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.

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

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