1 This autosomal recessive condition is usually caused by mutations in both alleles of the MEFV gene. However, heterozygous patients presenting with severe phenotype should be further analyzed for less common second MEFV mutation using gene sequencing.įamilial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever, peritonitis, pleuritis, synovitis and complications of amyloidosis. Therefore, our study supports the rising evidence that a single MEFV mutation could be associated with mild FMF symptoms.
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We found extremely high probabilities for the presence of FMF symptoms in heterozygous individuals and determined that symptoms were equally likely to occur in both analyzed genotypes. We used binomial probability distribution of symptoms in homozygous FMF patients to estimate the likelihood of their occurrences in heterozygous patients and demonstrated the assemblage of patients into groups with similar clinical criteria using statistical clustering. Besides four synonymous polymorphisms in exon two and five, we found a T267I mutation in one heterozygous patient with a severe case of FMF who should have been designated as compound heterozygous, yet the other genotypes were all accurate. We selected a subset of 63 heterozygous, homozygous and asymptomatic normal individuals and completely sequenced their MEFV genes (exons) to discover any other mutations potentially missed by currently used screening method. To explain this finding, we analyzed the symptoms and genotypes of 1299 patients, including 236 affected heterozygous patients with definite diagnosis of FMF. FMF is quite prevalent in Armenian population in which majority of patients have two mutated alleles, yet in 18% of symptomatic patients just one mutation has been detected. This product contains genetically modified organisms (GMOs).Familial Mediterranean fever (FMF) is an autoinflammatory disorder generally caused by recessively inherited mutations in the MEFV gene. Produced in genetically modified human embryonic kidney (HEK) 293 cells. *Recombinant, replication-deficient chimpanzee adenovirus vector encoding the SARS CoV 2 Spike glycoprotein. One dose (0.5 ml) contains: COVID 19 Vaccine (ChAdOx1-S* recombinant) 5 × 10^10 viral particles
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