Screening of the most common MEFV mutations in a large cohort of Egyptian patients with Familial Mediterranean fever

This is the largest study on FMF from Egypt. Exon 10 of the MEFV gene recorded hot spot variants in the studied Egyptian FMF patients. We suggest screening for exon 10 as the first step in molecular characterization of FMF patients. Although none of the mutations in exon 10 and 2 were detected in 49.3% of our patients, despite all of them suffered from FMF symptoms and responded well to colchicines. This study recommends full sequencing to MEFV gene in these patients which may help to discover new mutations in Egyptian FMF patients and to design a local diagnostic kit.