MEFV gene mutations in Iranian patients with familial mediterranean fever (FMF)

Purpose: Familial Mediterranean fever (FMF) is an autosomal recessive disease, which is characterized by recurrent short episodes of inflammation in serous membranes. It is most prevalent in Western Mediterranean population. MEFV is the only gene currently known to be associated with this disease. Molecular genetic tests detecting the MEFV gene located on chromosomal locus 16p13.3 usually confirm the diagnosis. Previous studies revealed that 6% of Iranian Jewish residents in Israel were carriers of MEFV mutation. The present study was undertaken to analyze the three known mutations of this gene in Iranian patients.