Is E148Q a Benign Polymorphism or a Disease-causing Mutation?: Table 1.

Abstract

Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent episodes of fever accompanied by sterile peritonitis, arthritis, pleuritis, and a typical inflammatory rash termed erysipelas-like erythema. The development of renal amyloidosis type AA is the most devastating manifestation of the disease, and prior to colchicine treatment was a major cause of morbidity and mortality. The disease is very prevalent among North African and Iraqi Jews, Middle Eastern Arabs, Turks, and Armenians, but rare in other populations. FMF is caused by mutations in the MEFV gene, which is composed of 10 exons and encodes a protein of 781 amino acids1,2. To date more than 50 mutations have been identified, most of which are extremely rare (Infevers database, http://fmf.igh.cnrs.fr/infevers). The association between FMF and mutations such as M694V, M694I, and V726A has been clearly established; however, controversy exists as to the role of the amino acid substitution E148Q, where glutamine (Q) …