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

C Constantinou Deltas1, Richard Mean, Elena Rossou

  • 1Department of Molecular Genetics C, Cyprus Institute of Neurology and Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus. DeltasCo@mdrtc.cing.ac.cy

Genetic Testing
|August 16, 2002
PubMed

Insights

Familial Mediterranean Fever (FMF) affects 1 in 25 Greek-Cypriots, with common mutations V726A, M694V, and F479L identified. This suggests FMF is prevalent in Cyprus, warranting consideration for newborn screening.

Area of Science:

  • Genetics
  • Epidemiology
  • Medical Science

Background:

  • Familial Mediterranean Fever (FMF) is a prevalent autosomal recessive autoinflammatory disorder.
  • FMF disproportionately affects populations from Mediterranean regions, including Arabs, non-Ashkenazi Jews, Armenians, and Turks.
  • The MEFV gene, located on chromosome 16p13.3, is responsible for FMF.

Purpose of the Study:

  • To determine the carrier frequencies of common MEFV gene mutations in the Greek-Cypriot population.
  • To identify the prevalence of specific FMF-associated mutations within Greek-Cypriots.
  • To assess the public health implications of FMF in Cyprus.

Main Methods:

  • Analysis of 68 Greek-Cypriot FMF chromosomes.
  • Identification and quantification of MEFV gene mutations, including V726A, M694V, and F479L.

Main Results:

  • Approximately 1 in 25 Greek-Cypriots are carriers for one of the three common FMF mutations.
  • The most frequent mutations found were V726A (25%), F479L (20.6%), and M694V (17.6%).
  • The F479L mutation, while rare globally, shows significant prevalence in this population.

Conclusions:

  • Familial Mediterranean Fever is not a rare condition among Greek-Cypriots.
  • The high carrier rate and potential morbidity underscore the need for increased awareness and diagnostic strategies.
  • A newborn screening program for FMF in Cyprus may be beneficial to prevent delayed diagnosis and unnecessary interventions.

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