The Clinical Significance of R202Q Mutation in the Pyrin Gene

ABS TRACT Objective: Familial Mediterranean fever (FMF) is a chronic autoinflammatory disease which is inherited in an autosomal recessive manner. There are various numbers of mutations de tected in Mediterranean fever ( MEFV ) gene, but only some of them are related to this disease. There are differences in MEFV gene mutations that are carried by FMF patients who belong to different ethnic groups. The aim of this study was to investigate whether there was a difference regarding the clinical symptoms among the patients with R202Q (c.605G>A) mutation and the individuals with one or a few of the common mutations. Material and Methods: In our study, we have included 166 individuals [146 patients (89 female; 61% and 57 male; 39%) and 20 healthy controls (10 female; 50% and 10 male; 50%)]. Demographic and clinical symptoms of the patients have been recorded. The mutations in exon 2 and 10 belonging to MEFV gene were identified by the DNA Sanger Se quencing method. Results: According to our results, the most common mutation detected in our pa tients was R202Q (39.73%) followed by M694V (25.34%). The patients were divided into four groups according to the mutations that they carry. There was no difference between the groups in terms of the clinical symptoms (fever, abdominal pain, chest pain, arthralgia, erysipelas-like ery thema and family history of FMF) (p=0.812, p=0.149, p=0.502, p=0.685, p=0.782, p=0.104, respec tively). Conclusion: There was no significant difference regarding the clinical symptoms between the patients carrying R202Q mutation and the patients with FMF disease related mutations.