Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive inflammatory disorder caused by mutations in the MEFV gene that encodes the pyrin protein. The disease is relatively common among people originating from the Mediterranean areas. The aim of this study was to determine the common MEFV gene mutations in 270 Palestinian patients diagnosed with FMF. The patients were screened for four common MEFV gene mutations namely, p.M694V, p.M694I, p.V726A, and p.E148Q using allele-specific polymerase chain reaction (AS-PCR). The results revealed that around 22% of the patients harbored two MEFV mutations, with the compound heterozygous forms being more prevalent than the homozygous ones. The most frequently encountered mutant allele was p.M694V which existed in around 12% of the tested chromosomes. The p.M694I, p.V226A and p.E148Q mutations were observed in around 9, 9 and 7% of the tested chromosomes, respectively. In about 29% of the patients only one mutant allele could be detected and around 49% of the patients did not show any of the investigated mutations. In conclusion, the four tested MEFV gene mutations have a significant contribution to FMF in the Palestinian population of Gaza strip. Screening for those mutations should be offered to FMF patients to confirm diagnosis and effect timely treatment. Further mutations analysis the MEFV gene should be conducted in this population in order to document additional MEFV mutations.

Genotypes and Phenotypes of Arab Patients with Familial Mediterranean Fever in North Jordan

“…While other studies have shown that fever was the most common presenting feature 12,22 . Arthritis was documented in 55.3% of patients which is higher than that reported among other ethnic groups, while the frequency of chest pain (29.3%) and skin manifestations (16.3%) was similar to that reported in other studies 13,22,23 .…”

“…M694V was reported to be the most common MEFV gene mutation in most studies 4,5,8,12,13,18,21,23,[25][26][27] . However, our results showed that R202Q was the most common variant, which was identified in 41.39% of patients.…”

“…More than 300 mutations have so far been identified 11 . The most common are M694V, M694I, M680I, V726A, and E148Q (12)(13)(14). The M694V mutation is the most frequent mutation observed in various ethnic groups, however its frequency varies from group to group.…”