Association of mutations and vascular involvement in Behçet's disease: a study from Hatay, Turkey.

Introduction: In this study, we aimed to determine the frequency of mutations in Behçet's disease (BD) and to investigate the relationship between clinical findings of the disease and the mutations.

Material And Methods: A total of 66 participants (30 BD patients, 36 healthy subjects) were included in this study. The gene was analyzed by using DNA sequence analysis.

Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.

Familial Mediterranean Fever (FMF), which is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian, Arabic and Jewish. The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. In this study, we aimed to present a new mutation that has not been previously defined from the mutations in the MEFV gene which is responsible for the genetic pathology of familial Mediterranean fever and to evaluate the frequency of distribution of the MEFV gene mutation among different ethnic groups living in our region.