Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.

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 on pyrin/PSTPIP1 interactions.

Results

A total of 40 symptomatic and 4 asymptomat

SUBMITTER: Ryan JG 

PROVIDER: S-EPMC3570240 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature