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

被引：347

作者：

Al-Mayouf, Sulaiman M. ^{[2
]}

Sunker, Asma ^{[1
]}

Abdwani, Reem ^{[3
]}

Al Abrawi, Safiya ^{[4
]}

Almurshedi, Fathiya ^{[5
]}

Alhashmi, Nadia ^{[4
]}

Al Sonbul, Abdullah ^{[2
]}

Sewairi, Wafaa ^{[6
,7
]}

Qari, Aliya ^{[8
]}

Abdallah, Eiman ^{[3
]}

Al-Owain, Mohammed ^{[8
,9
]}

Al Motywee, Saleh ^{[6
,7
]}

Al-Rayes, Hanan ^{[10
]}

Hashem, Mais ^{[1
]}

Khalak, Hanif ^{[1
]}

Al-Jebali, Latifa ^{[1
]}

Alkuraya, Fowzan S. ^{[1
,9
,11
,12
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Rheumatol Sect, Riyadh 11211, Saudi Arabia

[3] Sultan Qaboos Univ Hosp, Dept Child Hlth, Muscat, Oman

[4] Royal Hosp, Dept Child Hlth, Muscat, Oman

[5] Sultan Qaboos Univ Hosp, Dept Genet, Muscat, Oman

[6] King Fahad Natl Guard Hosp, Div Rheumatol, Dept Med, Riyadh, Saudi Arabia

[7] King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia

[8] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

[9] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

[10] Riyadh Mil Hosp, Dept Med, Riyadh, Saudi Arabia

[11] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia

[12] King Khalid Univ Hosp, Dept Pediat, Riyadh 11472, Saudi Arabia

来源：

NATURE GENETICS | 2011年 / 43卷 / 12期

关键词：

SUSCEPTIBILITY VARIANTS; DEOXYRIBONUCLEASE I; PXK;

D O I：

10.1038/ng.975

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1186 / 1188

页数：3

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