title: MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.
abstract: OBJECTIVE
  Familial Mediterranean fever (FMF) is an autosomal-recessive disorder characterized by recurrent attacks of fever, with abdominal, thoracic, or articular pain. FMF is particularly common in Mediterranean populations, while other populations are rarely affected. MEFV gene analysis provides the only objective diagnostic criterion for FMF. However, the spectrum of MEFV mutations, which was first established in classically affected populations, remains insufficiently studied in other populations. The purpose of this study was to assess involvement of MEFV in the phenotype of western European Caucasian patients with a clinical diagnosis of FMF.
  
  
  METHODS
  Mutation analysis was performed in 208 Caucasian patients from western Europe, by screening for the most common MEFV mutations in exons 2, 3, 5, and 10, and by sequencing the promoter region and the whole MEFV coding sequence in 21 of these patients.
  
  
  RESULTS
  None of the patients carried 2 mutated alleles. Only 2 patients carried 1 mutated allele.
  
  
  CONCLUSIONS
  FMF-like syndromes in western European Caucasian populations cannot be explained by MEFV mutations. These results should be helpful in avoiding laborious and costly MEFV molecular analyses that, at the population level, seem to be of poor diagnostic value in the case of western European Caucasian patients, and rather should prompt a search for other causes in those patients.
authors.affiliation: Service de Biochimie et de Génétique Moléculaire, INSERM U654, Hôpital Henri-Mondor, 51 Avenue de Maréchal de-Lattre-de-Tassigny, 94010 Creteil, France. dimitri.tchernitchko@im3.inserm.fr
authors.forename: D
authors.initials: D
authors.lastname: Tchernitchko
authors.forename: S
authors.initials: S
authors.lastname: Moutereau
authors.forename: M
authors.initials: M
authors.lastname: Legendre
authors.forename: A
authors.initials: A
authors.lastname: Delahaye
authors.forename: C
authors.initials: C
authors.lastname: Cazeneuve
authors.forename: C
authors.initials: C
authors.lastname: Lacombe
authors.forename: G
authors.initials: G
authors.lastname: Grateau
authors.forename: S
authors.initials: S
authors.lastname: Amselem
mesh_terms: D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005060:Europe; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D010641:Phenotype; D000071198:Pyrin; D044465:White People / Q000208:ethnology
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin