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August 2003
N. Zaks, Y. Shinar, S. Padeh, M. Lidar, A. Mor, I. Tokov, M. Pras, P. Langevitz, E. Pras and A. Livneh

Background: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent attacks of fever and serositis. The disease is caused by mutations in the MEFV gene, presumed to act as a down-regulator of inflammation within the polymorphonuclear cells.

Objectives: To present the results of 412 FMF patients genotyped for three MEFV mutations, M694V, V726A and E148Q.

Results: The most frequent mutation, M694V, was detected in 47% of the carrier chromosomes. This mutation, especially common among North African Jewish FMF[1] patients, was not found in any of the Ashkenazi (East European origin) patients. Overall, one of the three mutations was detected in 70% of the carrier chromosomes. M694V/M694V was the most common genotype (27%), followed by M694V/V726A (16%). The full genotype could be assessed in 57% of the patients, and one disease-causing mutation in an additional 26%. Only one patient with the E148Q/E148Q genotype was detected despite a high carrier rate for this mutation in the Jewish population, a finding consistent with a low penetrance of this genotype. The M694V/M694V genotype was observed in 15 patients with amyloidosis compared to 4 amyloidosis patients with other genotypes (P < 0.0001).

Conclusions: Because of low penetrance and as yet other undetermined reasons, mutation analysis of the most common MEFV mutations supports a clinical diagnosis in only about 60% of patients with definite FMF.

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[1] FMF = familial Mediterranean fever


September 1999
Pnina Langevitz, MD, Avi Livneh, MD, Shai Padeh, MD, Nurit Zaks, MD, Yael Shinar, MD, Deborah Zemer, MD, Elon Pras, MD, and Mordechai Pras, MD.
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