Familial Mediterranean fever associated pyrin mutations in Greece.
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.
Konstantopoulos
K
K
Department of Medicine I, Athens University Medical School, Athens, Greece. kkonstan@med.uoa.gr
Kanta
A
A
Deltas
C
C
Atamian
V
V
Mavrogianni
D
D
Tzioufas
A G
AG
Kollainis
I
I
Ritis
K
K
Moutsopoulos
H M
HM
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
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin