The importance of Mediterranean fever gene in familial Mediterranean fever.
Demet Yalçın KehribarMetin ÖzgenPublished in: European journal of rheumatology (2020)
In conclusion, the fact that a vast majority of the disease burden was constituted by the exon 10, especially M694V mutations and that none of the 837 patients from our cohort had a wild-type FMF proved the significance of MEFV gene mutation analysis. Therefore, we speculate that it is necessary to examine the MEFV gene mutations in each FMF suspected case. It seems plausible to re-evaluate the FMF diagnosis for cases in which a wild type MEFV gene mutation occurs.