Background: Familial Mediterranean fever is a genetic disease in which some characteristic gene mutations have been found.
Objectives: To analyze the phenotype-genotype correlations in North African Jews and Armenians with FMF.
Methods: We studied MEFV gene mutations and phenotype-genotype correlations in North African Jews and Armenians with Familial Mediterranean Fever living in France.
Results: M694V mutation was the most common mutation in Jews and in Armenians. Patients with M680I homozygosity or M680I/M694V compound heterozygosity had a phenotype as severe as patients with M694V homozygosity.
Conclusions: This study characterizes the phenotype-genotype in specific ethnic groups of patients with FMF.