title: Familial Mediterranean fever in children from the Aegean region of Turkey: gene mutation frequencies and phenotype-genotype correlation.
abstract: OBJECTIVE
  Familial Mediterranean fever (FMF) is diagnosed by fever episodes with sterile peritonitis, arthritis, pleurisy, and erysipelas-like erythema. The relationship between phenotype and genotype in FMF has not been adequately explained. The aim of this study was to characterize the phenotype and genotype correlation in FMF.
  
  
  METHODS
  Clinical diagnosis of FMF was conducted according to the Tel Hashomer criteria. Pras scoring was used to determine clinical severity. FMF strip assay analysis was used, and the hotspot regions were observed with PCR amplification and automatic DNA sequence analysis method.
  
  
  RESULTS
  We showed commonly seen mutations (most frequently M694V) in a study group of 191 patients. The disease severity score of patients with M694V mutation was high on the Pras scoring system. Patients with M694V mutation needed high colchicine dosages to control disease activity. R202Q was the most commonly seen polymorphism in 70 patients. The coexpression of R314R single nucleotide polymorphism on third exon was shown in our study. Moreover, D102D, G138G, and A165A subhaplotypes and E474E, Q476Q, and D510D subhaplotypes were also shown.
  
  
  CONCLUSIONS
  DNA sequence analysis should be a commonly used method for progress in the field of molecular genetics and for the better understanding of the FMF phenotype and genotype relationships in all populations.
authors.forename: Ebru
authors.initials: E
authors.lastname: Yilmaz
authors.forename: Nida
authors.initials: N
authors.lastname: Dinçel
authors.forename: Betül
authors.initials: B
authors.lastname: Sözeri
authors.forename: Kadriye
authors.initials: K
authors.lastname: Ozdemir
authors.forename: Ipek Kaplan
authors.initials: IK
authors.lastname: Bulut
authors.forename: Afig
authors.initials: A
authors.lastname: Berdeli
authors.forename: Makbule Sevgi
authors.initials: MS
authors.lastname: Mir
mesh_terms: D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D000071198:Pyrin; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin