Abstract
Cryopyrin-associated periodic Syndromes (CAPS) are caused by heterozygous mutations in the NLRP3 gene. More than 80 disease causing mutations have been identified, mostly clustered in NLRP3 exon 3, but also described in exons 4 and 6. However, up to 50% of clinically diagnosed CAPS patients (with identical clinical features and response to anti-IL-1 treatment) show no mutation in NLRP3 detected by conventional DNA sequencing analysis of exons 3, 4 and 6. Recently somatic NLRP3 mosaicism has been shown to account for up to 70% of these mutation negative CAPS patients.
Highlights
Cryopyrin-associated periodic Syndromes (CAPS) are caused by heterozygous mutations in the NLRP3 gene
Up to 50% of clinically diagnosed CAPS patients show no mutation in NLRP3 detected by conventional DNA sequencing analysis of exons 3, 4 and 6
Doi:10.1186/1546-0096-13-S1-P45 Cite this article as: Gomes et al.: Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
Summary
Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA. S Melo Gomes1*, J Arostegui[2], E Omoyinmi[1], A Standing[1], N Klein[1], H Lachmann[3], P Hawkins[3], P Brogan[1]. From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases Dresden, Germany. From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases Dresden, Germany. 30 September - 3 October 2015
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