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The Clinical Effect of Gene Mutations in Familial Mediterranean Fever Disease. BACKGROUND: Familial Mediterranean Fever (FMF) is a self-limiting autoinflammatory disease characterized by inflammation of the serosal surfaces and recurrent episodes of fever. The aim of this study is to determine the effect of genetic mutations on clinic in children with a diagnosis of FMF. METHODS: 303 patients between the ages of 0-18, who were diagnosed with FMF according to Yalçınkaya-Özen diagnostic criteria and whose gene analysis was studied, were evaluated retrospectively. The clinical and demographic characteristics of the patients and the relationship between common alleles and genotypes were investigated. RESULTS: The most common mutation in patients was M694V heterozygous. When the patients were divided into 4 groups as M694V homozygous, heterozygous, M694V/other allele combined heterozygous and other mutations, the arthritis M694V was statistically significantly higher in the group with homozygous compared to the other groups. It was observed that the presence of the M694V allele significantly increased the frequency of PFAPA syndrome. The frequency of arthritis was significantly higher in patients with E148Q homozygous than in patients with heterozygous. Appendectomy history was significantly higher in the group carrying the V726A allele. CONCLUSIONS: We think that we can better understand FMF disease and the effect of genetics on the disease, thanks to studies evaluating the genotype-phenotype relationship. In this regard, we believe that studies evaluating the clinical and genotype relationship with large series are needed.