Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus.
Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high prevalence within Mediterranean countries and particularly common in four ethnic populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks. The responsible gene MEFV has been assigned to chromosome 16p13.3. Our aim was to establish the frequencies of the most common mutations in Greek-Cypriots. We found that 1 in 25 is a carrier of one of three mutations. V726A, M694V, and F479L. In 68 Grek-Cypriot FMF chromosomes analyzed, we found V726A (25%), F479L (20.6%), M694V (17.6%), and others (36.8%). Mutation F479L, relatively common in this population, is very rare elsewhere. Our study indicates that FMF is not a rare condition in Cyprus and that, because of the significant morbidity associated with this disorder, which is often diagnosed only after unnecessary surgeries, a newborn screening program to detect affected in this population may be warranted.
Department of Molecular Genetics C, Cyprus Institute of Neurology and Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus. DeltasCo@mdrtc.cing.ac.cy
C Constantinou
CC
Deltas
Richard
R
Mean
Elena
E
Rossou
Constantina
C
Costi
Panayiota
P
Koupepidou
Irene
I
Hadjiyanni
Victor
V
Hadjiroussos
Petros
P
Petrou
Alkis
A
Pierides
Klea
K
Lamnisou
Michael
M
Koptides
D003535:Cyprus / Q000453:epidemiology; D005006:Ethnicity / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006115:Greece / Q000208:ethnology; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree