title: TheMEFVgene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population.
abstract: The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. TheMEFVgene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants. The most prominent clinical symptoms were abdominal pain (53.4%), fever (23.4%) and arthritis (23.3%). Eighteen different pathogenic variants were identified and the most frequent were p.Met694Val (20.0%), p.Glu148Gln (13.3%), p.Met680 Ile (11.7%) and p.Arg202Gln (11.7%). Abdominal pain, fever and arthritis were the most common presenting clinical characteristics. Results showed that not only clinical characteristics, but also genotyping of theMEFVgene is needed to establish the correct diagnosis of FMF in children and other family members.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University 17100, Çanakkale, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Battal
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart University 17100, Çanakkale, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Silan
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University 17100, Çanakkale, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Topaloğlu
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University 17100, Çanakkale, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Aylanç
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University 17100, Çanakkale, Turkey.
authors.forename: Ş
authors.initials: Ş
authors.lastname: Yıldırım
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University 17100, Çanakkale, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Köksal Binnetoğlu
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University 17100, Çanakkale, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Tekin
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University 17100, Çanakkale, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Kaymaz
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart University 17100, Çanakkale, Turkey; Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University 58140, Sivas, Turkey.
authors.forename: O
authors.initials: O
authors.lastname: Ozdemir
keywords: Amyloidosis; Children; Familial Mediterranean fever (FMF); Genotype-phenotype correlations; Pathogenic variant