Patient with FMF and Triple MEFV Gene Mutations

Patient with FMF and Triple MEFV Gene Mutations

INTRODUCTION Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease with monogenic (MEditerranean FeVer -MEFV- gene) inherited pattern. It mainly affects ethnic groups living along the eastern Mediterranean Sea: Turks, Sephardic Jews, Armenians, and Arabs [1]. Today FMF is not rare disease in other Mediterranean ethnicities, such as Greeks, Italians, and Iranians. CAS...

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...

First report of MEFV duplication in FMF patient

Introduction Familial mediterranean fever (FMF) is a rare monogenic disease and the prototype of autoinflammatory disorders. It is caused by mutations in the MEFV gene and is autosomal recessively inherited. Most mutations are missense substitutions, small deletions are quite rare, and only three nonsense mutation has been described (http://fmf.igh.cnrs. fr/ISSAID/infevers/). Large rearrangemen...

P01-004 – MEFV genes and FMF

MEFV gene in a group of FMF patients with no coding region mutations, to identify variations with a possible role in the regulation of MEFV

1Department of Genetics, Institute for Experimental Medicine; 2Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine; 3Division of Rheumatology, Department of Internal Medicine, and 4Department of Pediatrics, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey. This study was supported by the Istanbul University Research Fund (YOP3-27052004). ...