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

Abstract

Background and aimFamilial Mediterranean fever (FMF) is the most common monogenic auto-inflammatory disease (AID) characterized by self-limited inflammatory attacks of fever and serosal tissues inflammation. FMF is caused by mutations in the MEFV gene coding for pyrin, which is a component of inflammasome functioning in inflammatory response. The objectives of the investigation were to evaluate the clinical symptoms and screen the most common MEFV variants in the Egyptian FMF patients. Methods818 FMF patients were enrolled in this study based on clinical criteria. Three different screening molecular methods were used; ARMs, strip assay and direct Sanger sequencing. ResultsThe most frequent clinical presentations of the patients were abdominal pain, fever and arthritis. Most of the patients responded to colchicine therapy. MEFV gene mutations were detected in 60% of the patients. The most common mutations were; M694I (27.59%), M762A (16.84%), M680I (16.02%), E148Q (10.34%) and M694V (9.33%). ConclusionThis 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.