Background Mutations of the MEFV gene, which encodes pyrin protein, a negative regulator of inflammation, leads to Familial Mediterranean Fever (FMF). Recent studies with adults suggest that MEFV gene mutations may have a risk factor for other rheumatic diseases.
Objectives In this study, we aimed to study the frequency of MEFV gene mutations in children with Juvenile Idiopathic Arthritis (JIA).
Methods Children with JIA who had no typical symptoms of familial Mediterranean fever (FMF) were screened for the mutations in exon 2 and exon 10 of the MEFV gene. Each sample was screened for the mutations located in exon 2 and exon 10 of the MEFV gene by direct sequencing.
Results A total of 52 children, 29 girls (55.8%), with a mean age of 9.6±4.4 years (2-16.6 years) were included. Patients were classified according to JIA subgroups as oligoarthritisin 26 (50%), polyarthritisin 13 (24.8%), systemic arthritis in11 (21.2%) patients and arthritis related with enthesitis and with inflammatory bowel disease one each. Eleven patients (21.2%) were heterozygous, two (3.8%) were homozygous and another two were compound heterozygous for MEFV gene. The allele frequency of MEFV mutations was found to be 18.2%, which is higher than the general population. No significant difference was found between the subgroups of JIA.
Conclusions These finding suggest that mutations of the MEFV gene may present with varied distinct clinical presentations other than FMF. The MEFV gene may be responsible for diseases other than FMF.
Disclosure of Interest None Declared
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