Spectrum of mutations of familial Mediterranean fever gene in Iranian population

Abstract

Introduction Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder caused by a mutation in MEFV, a gene which encodes a 781-amino acid protein called pyrin . The classic clinical picture consists of recurrent febrile episodes that are usually of an acute onset, variable frequency, sometimes without a recognized triggering factor, but often occurring with menstruation, emotional stress or strenuous physical activity . FMF is usually an autosomal recessive disorder. The disease affects populations of Mediterranean origin: Ashkenazi Jews, North African Jews, Armenians, Arabs, Italians, and Turks. The gene causing FMF was cloned in 1997 . The gene responsible for FMF (MEFV) is located on the short Abstract