title: Familial Mediterranean fever associated pyrin mutations in Greece.
abstract: OBJECTIVE
  To search for pyrin mutations associated with familial Mediterranean fever (FMF) in Greece.
  
  
  METHODS
  62 patients fulfilling the Tel Hashomer diagnostic criteria for definite (33) or probable (29) FMF diagnosis were studied. Eight point mutations of pyrin gene were tested by standard methods. Of the 62 patients tested, 48 were Greek, four were Jewish, seven were Armenian, and three were Arab.
  
  
  RESULTS
  42 patients were found to be homozygotes for pyrin mutations; 11 patients were found to carry only one of the tested mutations; in nine patients no mutations were detected.
  
  
  CONCLUSIONS
  Molecular detection of pyrin gene mutations seems useful in confirming suspected cases, and in detecting asymptomatic cases, of Mediterranean fever in Greece. It may also be used as a screening tool within affected families.
authors.affiliation: Department of Medicine I, Athens University Medical School, Athens, Greece. kkonstan@med.uoa.gr
authors.forename: K
authors.initials: K
authors.lastname: Konstantopoulos
authors.forename: A
authors.initials: A
authors.lastname: Kanta
authors.forename: C
authors.initials: C
authors.lastname: Deltas
authors.forename: V
authors.initials: V
authors.lastname: Atamian
authors.forename: D
authors.initials: D
authors.lastname: Mavrogianni
authors.forename: A G
authors.initials: AG
authors.lastname: Tzioufas
authors.forename: I
authors.initials: I
authors.lastname: Kollainis
authors.forename: K
authors.initials: K
authors.lastname: Ritis
authors.forename: H M
authors.initials: HM
authors.lastname: Moutsopoulos
mesh_terms: D018912:Arabs / Q000235:genetics; D001136:Armenia / Q000208:ethnology; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006115:Greece; D006720:Homozygote; D006801:Humans; D007585:Jews / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin