Mutations of familial Mediterranean fever in Syrian patients and controls: Evidence for high carrier rate

Abstract

BackgroundFamilial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in Mediterranean FeVer (MEFV) gene and is characterized by recurrent attacks of abdominal pain, synovitis and pleuritis. Methods and resultsTo determine the impact of mutations in MEFV on the Syrian population, we ascertained the distribution of MEFV mutations in 358 healthy controls and 302 FMF patients from Syria. Mutation detection allowed the identification of 14 different MEFV mutations in the healthy controls. The most dominant mutations detected were E148Q (7.68%), V726A (2.5%), M694I (1.68%), R408Q (1.54%), P369S (1.54%), and M694V (1.12%). In patients, M694V is the most common mutation identified in the Syrian FMF patients (24.1%), followed by E148Q (13.5%), V726A (11.4%), M680I(G/C) (10.3%), and M694I (8.2%). Conclusionsour data show that the carrier rate in healthy Syrian individuals is at least 1:3.3 (30.2%) and thus one of the highest and we confirm that some of the mentioned mutations and probably further genetic variants have variable penetrance or that FMF is underdiagnosed in the Syrian population.