Abstract
Systemic-onset juvenile idiopathic arthritis (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis, manifested by spiking fever, erythematous skin rash, pericarditis and hepatosplenomegaly. The genetic background underlying s-JIA remains poorly understood. To detect disease-related copy number variations (CNVs), we performed single-nucleotide polymorphism array analysis in 50 patients with s-JIA. We detected many CNVs, but most of them were inherited from either of normal-phenotype parents. However, in one patient, we could identify two de novo microduplications at 19q13.42 with the size of 77 and 622 kb, separated by a 109-kb segment of normal copy number. The duplications encompass NLRP family (NLRP2, NLRP9 and NLRP11) as well as IL11 and HSPBP1, all of which have an important role in inflammatory pathways. These genes may significantly contribute to the pathogenesis of s-JIA.
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Acknowledgements
We thank patients and their families for their participation in this study. This work was supported by grants from the Ministry of Education, Culture, Sports, Science and Technology (NM), the Japan Science and Technology Agency (NM), the Ministry of Health, Labour and Welfare, Japan (SY and NM) and Mother and Child Health Foundation (NM).
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Tadaki, H., Saitsu, H., Nishimura-Tadaki, A. et al. De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis. J Hum Genet 56, 343–347 (2011). https://doi.org/10.1038/jhg.2011.16
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DOI: https://doi.org/10.1038/jhg.2011.16
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