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.
Deltas
C Constantinou
CC
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
Mean
Richard
R
Rossou
Elena
E
Costi
Constantina
C
Koupepidou
Panayiota
P
Hadjiyanni
Irene
I
Hadjiroussos
Victor
V
Petrou
Petros
P
Pierides
Alkis
A
Lamnisou
Klea
K
Koptides
Michael
M
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