Familial Mediterranean fever (FMF, MIM249100) which is the prototype of a group of disorders termed ‘systemic autoinflammatory diseases’ is characterized by seemingly unprovoked episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The disease is typically common among Mediterranean populations and extending through worldwide by genetic diagnosis reports. In this report, we present a 44-year-old female patient who was admitted with periodic fever in our clinic and diagnosed with FMF. For genetic diagnosis, FMF StripAssay® and DNA sequencing analysis method were used. DNA sequencing analysis of Mediterranean fever gene revealed a nonsense p.Y471X mutation which was featured as the second nonsense mutation in FMF mutation database. This underscored the significance of genetic analysis in the ancestral populations of FMF. An exact clinical and molecular diagnosis is critically essential for the accurate follow-up and treatment of FMF patients. Large scale screening analysis of nucleotide variations may also prevent novel variations from being overlooked.

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