Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus

Genet Test. Spring 2002;6(1):15-21. doi: 10.1089/109065702760093861.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cyprus / epidemiology
  • Ethnic Groups / genetics*
  • Familial Mediterranean Fever / epidemiology
  • Familial Mediterranean Fever / genetics*
  • Female
  • Gene Frequency*
  • Greece / ethnology
  • Humans
  • Male
  • Mutation*
  • Pedigree