MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever.

Background: Familial Mediterranean fever is a genetic disease in which some characteristic gene mutations have been found.

Objective: 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.