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 | |
| Publication status | Published - Dec 2011 |
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ASJC Scopus subject areas
- Genetics
Cite this
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
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TY - JOUR
T1 - Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
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.
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.
UR - http://www.scopus.com/inward/record.url?scp=82255192363&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=82255192363&partnerID=8YFLogxK
U2 - 10.1038/ng.975
DO - 10.1038/ng.975
M3 - Article
C2 - 22019780
AN - SCOPUS:82255192363
VL - 43
SP - 1186
EP - 1188
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 12
ER -