Familial Mediterranean Fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
Date
2002Author
Constantinou-Deltas, Constantinos D.Mean, R.
Rossou, Elena
Costi, Constantina Eleni
Koupepidou, P.
Hadjiyanni, I.
Koptides, Michael
Hadjiroussos, V.
Petrou, P.
Pierides, Alkis M.
Lamnissou, Klea
Koptides, M.
ISSN
1090-6576Source
Genetic testingVolume
6Pages
15-21Google Scholar check
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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.