Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein
JG Ryan, SL Masters, MG Booty, N Habal, JD Alexander, BK Barham, EF Remmers, KS Barron, DL Kastner, I Aksentijevich
ANNALS OF THE RHEUMATIC DISEASES | B M J PUBLISHING GROUP | Published : 2010
OBJECTIVES: Familial Mediterranean fever (FMF) is caused by mutations in MEFV, which encodes pyrin. The nature of substitutions P369S and R408Q in exon 3 remains unclear. Exon 3 encoding pyrin's B-box domain is necessary for interactions with proline serine threonine phosphatase interacting protein 1 (PSTPIP1). The aim was to characterise the phenotype of patients with these substitutions and to determine their functional significance. METHODS: A database of genetic tests undertaken at the US National Institutes of Health was interrogated. Symptoms and signs were classified according to Tel-Hashomer criteria. Coimmunoprecipitation techniques were employed to determine the variants' effects o..View full abstract
Awarded by NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES
This research was supported by the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health.