The spectrum of MEFV gene mutations and genotype-phenotype correlation in Egyptian patients with familial Mediterranean fever

MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...

The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population

The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The MEFV gene profi...

Familial Mediterranean fever phenotype and MEFV variations.

Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever

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 com...

MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study

BACKGROUND Familial Mediterranean fever (FMF) is the most common autoinflammatory disorder in the world. It is characterized by recurrent febrile inflammatory attacks of serosal and synovial membranes. MEFV gene mutations are responsible for the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. Although the disease ma...