Journal article

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

Abstract

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..

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University of Melbourne Researchers