17 research outputs found
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 Greek-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
affecteds in this population may be warranted