Familial Mediterranean Fever (FMF) Mutations Occur Frequently in the Greek-Cypriot Population of Cyprus

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.

Prevalence of Mediterranean FeVer Gene Mutations in Turkish Cypriot Population

“…There are limited studies conducted in the south part of the island on inherited diseases, particularly on thalassemia and two studies on MEFV mutation carriage in Greek Cypriot FMF patients. 6,7 Although there are approximately 220 recorded patients with end stage renal disease in North Cyprus, etiology is unknown in 29.8% of them. 10 Moreover, the incidence of FMF disease and amyloidosis in Turkish Cypriot population is unknown.…”

“…5 The prevalence of MEFV mutations in Greek Cypriots with FMF disease was first reported in 2002. 6 Prevalence of MEFV mutations in Turkish Cypriot population has not been studied yet. Therefore, in this study, we aimed to determine the carrier frequency and the most common mutations of the MEFV gene in healthy Cypriot population of Turkish origin.…”

The Cypriot and Iranian National Mutation Frequency Databases

“…1A, Table 1). The Cypriot NMDB includes information for the mutation frequencies of α-thalassemia (Baysal et al, 1995, Kyriakou et al, 2000, β-thalassemia (Baysal et al, 1992), δ-thalassemia (Triffilis et al, 1993), G6PD deficiency (Drousiotou et al, 2004), cystic fibrosis (Deltas, 1998), familial hypercholesterolemia (Xenophontos et al, 2000;Baysal E, personal communication), familial Meditteranean fever (Deltas et al, 2002), GM-1 gangliosidosis type I (Georgiou et al, 2005), Sandhoff disease (Drousiotou et al, 2000), Huntington disease (Christodoulou K., unpublished), Y-linked spermatogenic failure (Ioulianos et al, 2002, achondroplasia (Patsalis PC., personal communication), Fragile X syndrome (Patsalis et al, 1999a(Patsalis et al, , 1999b, Prader-Willi, Angelman, Williams-Beuren and 22q11.2 micro-deletion syndromes (Patsalis PC, personal communication), X-linked ichthyosis, retinoblastoma (Patsalis PC, personal communication) and various rearrangements in chromosomal subtelomeric regions (Sismani et al, 2001, Patsalis et al, 2004, leading to Miller-Dieker lissencephaly (17p), Cri du Chat (5p), Wolf-Hirschhorn syndromes (4p), α-thalassemia, tuberous sclerosis and the adult form of polycystic kidney disease (16p). It should be stated that all the Turkish Cypriot mutation data pertain to the indigenous Turkish Cypriots, based on well-preserved medical records, and none of the data were derived from the settlers from Turkey who immigrated to Cyprus only after Turkey's invasion to Cyprus in 1974.…”

Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population

“…FMF is also reported in other countries of the Mediterranean, including Cyprus, Italy and Spain (Deltas et al 2002;La Regina et al 2003;Aldea et al 2004). It is characterized by recurrent, self-limited attacks of fever accompanied by peritonitis, arthritis or pleuritis and insidious development of systemic amyloidosis (Sohar et al 1967;Ben-Chetrit & Levy 1998).…”