1. A novel tumour necrosis factor receptor mutation in a Finnish family with periodic fever syndrome.
- Author
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Stjernberg-Salmela, S., Pettersson, T., Karenko, L., Blazevic, V., Nevala, H., Pitkänen, S., Peterson, P., Ranki, A., and Pitkänen, S
- Subjects
PERIODIC diseases ,TUMOR necrosis factors ,GENETIC mutation ,FAMILIAL diseases ,CYSTEINE proteinases ,CELL receptors ,COMPARATIVE studies ,CYCLES ,ENZYME-linked immunosorbent assay ,FEVER ,GENEALOGY ,GENETIC techniques ,RESEARCH methodology ,MEDICAL cooperation ,POLYMERASE chain reaction ,RESEARCH ,SYNDROMES ,EVALUATION research ,SEQUENCE analysis - Abstract
Objective: To report a novel mutation of the TNF receptor type 1 gene (TNFRSF1A) in a Finnish patient and her mother, both suffering from periodic fever.Methods: Soluble TNFRSF1A in serum was measured by enzyme-linked immunoabsorbancy, and induced TNFRSF1A shedding from monocyte cell surfaces was determined using fluorescence-activated cell sorter. Mutation detection was performed using PCR amplification and sequencing of the ten exons of TNFRSF1A.Results: Low levels of soluble TNFRSF1A were detected in both patients between attacks. Sequencing revealed a missense mutation in exon 3 in the second extracellular domain of TNFRSF1A, resulting in a substitution of cysteine with arginine at residue 73 (C73R), confirming the diagnosis of TNF receptor-associated periodic syndrome (TRAPS). We were unable to demonstrate a distinct TNFRSF1A shedding defect.Conclusion: In patients of Nordic descent, affected by dominantly inherited recurrent fever, TRAPS is a diagnosis worthy of attention. All TNFRSF1A mutations hitherto described in the Nordic countries have been different. [ABSTRACT FROM AUTHOR]- Published
- 2004