Familial Mediterranean fever associated pyrin mutations in Greece
Ημερομηνία
2003Συγγραφέας
Print Email Konstantopoulos, KonstantinosKanta, Alexandra
Constantinou-Deltas, Constantinos D.
Atamian, V.
Mavrogianni, D.
Tzioufas, A. G.
Kollainis, I.
Ritis, K.
Moutsopoulos, H. M.
Source
Annals of the Rheumatic DiseasesVolume
62Pages
479-481Google Scholar check
Keyword(s):
Metadata
Εμφάνιση πλήρους εγγραφήςΕπιτομή
Objective: To search for pyrin mutations associated with familial Mediterranean fever (FMF) in Greece. Patients and 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. Conclusion: 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.