Cystic Fibrosis is the most common recessive autosomal rare disease found in Caucasians. It is caused by mutations on the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) that encodes a protein located on the apical membrane of epithelial cells. c.3909C>G (p.Asn1303Lys, old nomenclature: N1303K) is one of the most common worldwide mutations. This mutation has been found at high f...

beta thalassaemia is present throughout the southern regions of the former USSR. We have defined the clinical picture of the disorder, the spectrum of beta thalassaemia mutations, and the role of customary consanguineous marriage in Azerbaijan, where thalassaemia presents a public health problem of the same order as that in Greece. Contrary to earlier suggestions, we found that the common form ...

In their otherwise excellent review of familial Mediterranean fever (FMF), Lidar and Livneh argue against testing for Mediterranean fever gene (MEFV) mutations both in their diagnostic algorithm and in their subsequent discussion of the case. Although the clinical criteria for FMF are highly sensitive and specific, incorporation of genetic testing will not only confirm the diagnosis but adds va...

Some genes have an unproven role in the pathogenesis of Rheumatoid arthritis (RA). One of these suspected genes is the Mediterranean fever (MEFV) gene. MEFV is responsible for familial Mediterranean fever (FMF). Currently, more than 100 FMF-associated mutations of the MEFV gene have been identified. With most located on exon 10, five of these: E148Q, M680I, M694V, M694I, and V726A account for m...

Neutrophilic Lobular Panniculitis as an Expression of aWidened Spectrumof Familial Mediterranean Fever Familial Mediterranean fever (FMF) is considered to be an autosomal recessive disease, though it is controversial.1-3 The marenostrin-encoding fever gene (MEFV) is responsible for FMF. The most frequent mutation is M694V, which represents a genetic risk factor for development of amyloidosis1 a...

BACKGROUND Familial Mediterranean fever (FMF) is a recessively inherited disease with a variety of clinical presentations. The disease is associated with mutations in the FMF gene (MEFV), which encodes for the pyrin protein. The role of the E148Q pyrin mutation in the FMF phenotype remains inconclusive, and some authors even view it as a disease-insignificant polymorphism. The calculated change...

OBJECTIVE Familiar Mediterranean Fever (FMF) is common among Mediterranean populations, while other populations are rarely affected. The aim of this study was to assess the involvement of MEFV gene mutations among Japanese rheumatoid arthritis patients with or without amyloid A (AA) amyloidosis. METHODS The frequency of the MEFV mutations, which were identified in Japanese FMF patients, was d...

OBJECTIVE To describe the spectrum of genetic mutations in patients with clinical diagnosis of Familial Mediterranean Fever. METHOD This is a retrospective study of 3359 sera samples for patient with clinical diagnosis of FMF, over a period of 6 years. The samples were tested for 12 mutations of the MEFV gene by PCR& hybridization of the PCR product with Probes immobilized as an array of pane...

BACKGROUND Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes...

Our aim was to construct a Familial Mediterranean Fever (FMF) cumulative database and to propose a MEFV based phylogenetic tree. Data were collected from published studies. A meta-analysis based on 16,756 chromosomes from FMF patients and normal individuals from 14 affected populations was performed. Arlequin 2.0 and Phylip 3.2 software were used for population genetics analysis and phylogeneti...