MEFV mutations and the clinical correlation of patients

Familial Mediterranean Fever (FMF-AAA) is one of the most common autosomal recessive diseases in the Eastern Mediterranean population, which is caused by mutations in the MEFV gene and has a carrier frequency of 1/8-1/16. The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to the geographical regions of Turkey. Therefore, a large number of data is needed for Turkish FMF patients from different geographical regions. The aim of this study is to reveal the distribution and clinical relevance of common MEFV mutations in Turkish FMF patients in our region. In this study, molecular test results of 300 patients who were referred to the Department of Medical Genetics and diagnosed with clinical symptoms of FMF and their relationship with clinical findings were evaluated.