| Affiliation: | 1. Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus;2. Department of Epidemiology & Public Health, Yale University, CT, USA;3. Department of Pediatrics, Hospital ‘Archbishop Makarios III’, Nicosia, Cyprus;4. St. George's, University of London, University of Nicosia Medical School, Nicosia, Cyprus;5. Iasis Hospital, Paphos, Cyprus;6. Department of Economics, University of Cyprus, Nicosia, Cyprus;7. Department of Pediatrics, Larnaca General Hospital, Larnaca, Cyprus;8. The School of Medicine, European University of Cyprus, Egkomi, Cyprus;9. Iliaktida Peadiatric & Adolescent Medical Centre, Limassol, Cyprus;10. Corner Limassol Av. & Armenias Str., Acropolis, Nicosia, Cyprus;11. Department of Nephrology, Hippocrateon Hospital, Nicosia, Cyprus;12. Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus |
| Abstract: | Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene and the spectrum of mutations among Greek–Cypriots with FMF‐related symptoms was examined. Sequence analysis for exons 2, 3, 5, and 10 of the MEFV gene was performed in a cohort of 593 patients. A total of 70 patients carried mutations in the homozygote or compound heterozygote state, 128 were identified with one MEFV mutation and 395 had no mutations. Of the 268 identified alleles, p.Val726Ala (27.61%) was the most frequent followed by p.Met694Val (19.40%). The missense mutations p.Arg761His (3.73%) and p.Ala744Ser (2.24%) were identified as the rarest. An interesting finding is the high frequency (18.28%) of the complex p.Phe479Leu–p.Glu167Asp that was identified in 49 of the mutated alleles. The MEFV genotypes did not follow a binomial distribution and proved not to satisfy the HWE (P < 0.001). The high percentage (66.61%) of patients with unidentified mutations could be due to mutations in the rest of the coding or noncoding MEFV gene or due to mutations in other genes that are also causing Hereditary Recurrent Fevers. Results from this work indicate the high incidence of FMF in Cyprus and describe the spectrum of the mutations which occur in the country. |
