Deletion in MEFV resulting in the loss of p.M694 residue as the cause of autosomal dominant familial Mediterranean fever in North Western European Caucasians - a case series and genetic exploration

Introduction Familial Mediterranean fever (FMF) is the commonest hereditary autoinflammatory disease and it has mostly been reported in populations of Mediterranean ancestry, especially Armenians, Arabs, Turks, non-Ashkenazi and Sephardic Jews. FMF has a very low prevalence amongst Western Europeans. Its hallmarks are autosomal recessive inheritance and short bursts of illness lasting up to 3 days comprising fever, serositis and arthritis, and which can largely be prevented by daily colchicine treatment. The FMF gene MEFV is located on chromosome 16p andconsists of 10 exons. Although the disease is usually inherited in an autosomal recessive fashion, deletion of methionine at position 694 has been associated with dominant inheritance.