• Isr Med Assoc J · Nov 2001

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

    • D Cattan, M Dervichian, M Thomas, C Dode, and I Touitou.
    • Department of Gastroenterology and Hepatology, Central Hospital, Villeneuve St. George, France. gastvsg@clun-internet.fr
    • Isr Med Assoc J. 2001 Nov 1; 3 (11): 803804803-4.

    BackgroundFamilial Mediterranean fever is a genetic disease in which some characteristic gene mutations have been found.ObjectivesTo analyze the phenotype-genotype correlations in North African Jews and Armenians with FMF.MethodsWe studied MEFV gene mutations and phenotype-genotype correlations in North African Jews and Armenians with Familial Mediterranean Fever living in France.ResultsM694V 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.ConclusionsThis study characterizes the phenotype-genotype in specific ethnic groups of patients with FMF.

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