THE MEFV GENE PATHOGENIC VARIANTS AND PHENOTYPE-GENOTYPE CORRELATION IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER IN THE ÇANAKKALE POPULATION
Battal F, Silan F, Topaloğlu N, Aylanç H, Yıldırım Ş, Köksal Binnetoğlu F1, Tekin M1, Kaymaz N1, Ozdemir O,
*Corresponding Author: Assistant Professor Dr. Şule Yıldırım, Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Terzioğlu Yerleşkesi Ek Bina, 17100, Çanakkale, Turkey. Tel: +90-286-2180018/2107. Fax: +90- 286-263-59-56. E-mail: sule.yildirim@comu.edu.tr
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REFERENCES

1. Ozdemir O, Sezgin I, Kucuk KH, Candan F, Koksal B, Sumer H, et al. Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers. Mol Biol Rep. 2011; 38(5): 3195-3200. 2. Ozalkaya E, Mir S, Sozeri B, Berdeli A, Mutlubas F, Cura A. Familial Mediterranean fever gene mutation frequencies and genotype-phenotype correlations in the Aegean region of Turkey. Rheumatol Int. 2011; 31(6): 779-784. 3. Saatçi Ü, Bakkaloğlu A, Özen S, Beşbaş N. Familial Mediterranean and amyloidosis in children. Acta Paediatr. 1993; 82(8): 705-706. 4. Aldea A, Calafell F, Aróstegui JI, Lao O, Rius J, Plaza S, et al. The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination “hotspot” at the MEFV locus. Hum Mutat. 2004; 23(4): 399-406. 5. Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production. Proc Natl Acad Sci USA. 2006; 103(26): 9982-9987. 6. Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leucocyte development and is regulated in response to inflammatory mediators. Blood. 2000; 95(10): 3223-3231. 7. Deltas CC, Mean R, Rossou E, Costi C, Koupepidou P, Hadjiyanni I, et al. Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus. Genet Test. 2002; 6(1): 15-21. 8. Goulielmos GN, Fragouli E, Aksentijevich I, Sidiropoulos P, Boumpas DT, Eliopoulos E. Mutational analysis of the PRYSPRY domain of pyrin and implications for familial Mediterranean fever (FMF). Biochem Biophys Res Commun. 2006; 345(4): 1326-1332. 9. Majeed HA, El-Khateeb M, El-Shanti H, Rabaiha ZA, Tayeh M, Najib D. The spectrum of familial Mediterranean fever gene mutations in Arabs: Report of a large series. Semin Arthritis Rheum. 2005; 34(6): 813-818. 10. Medlej-Hashim M, Serre JL, Corbani S, Saab O, Jalkh N, Delague V, et al. Familial Mediterranean fever (FMF) in Lebanon and Jordan: A population genetics study and report of three novel mutations. Eur J Med Genet. 2005; 48(4): 412-420. 11. Mor A, Shinar Y, Zaks N, Langevitz P, Chetrit A, Shtrasburg S, et al. Evaluation of disease severity in familial Mediterranean fever. Semin Arthritis Rheum. 2005; 35(1): 57-64. 12. The French FMF Consortium. A candidate gene for familial Mediteranean fever. Nat Genet. 1997; 17(1): 25-31. 13. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely the cause familial Mediteranean fever. Cell. 1997; 90(4): 797-807. 14. Livneh A, Langevitz P, Shinar Y, Zaks N, Kastner DL, Pras M, et al. MEFV mutation analysis in patient suffering from amyloidosis of Familial Medterranean Fever. Amyloid. 1999; 6(1): 1-6. 15. Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: An evolving mutation database for auto-inflammatory syndromes. Hum Mutat. 2004; 24(3): 194-198. 16. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al.; Turkish FMF Study Group. Familial Mediterranean fever (FMF) in Turkey: Results of a nationwide multicenter study. Medicine (Baltimore). 2005; 84(1): 1-11. 17. Zaks N, Shinar Y, Padeh S, Lidar M, Mor A, Tokov I, et al. Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever. Med Assoc J. 2003; 5(8): 585-588. 18. Dewalle M, Domingo C, Rozenbaum M, Ben-Chétrit E, Cattan D, Bernot A, et al. Genotype-phenotype correlation in Jewish patients suffering from Familial Mediterranean Fever (FMF). Eur J Hum Genet. 1998; 6(1): 95-97. 19. Goldfinger SE. Colchicine for familial Mediterranean fever. N Eng J Med. 1972; 287(25): 1302. 20. Shinar Y, Livneh A, Langevitz P, Zaks N, Aksentijevich I, Koziol DE, et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J Rheumatol. 2000; 27(7):1703-1707. 21. Kasifoglu T, Bilge SY, Sari I, Solmaz D, Senel S, Emmungil H, et al. Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: A multicentre study. Rheumatology (Oxford). 2014; 53(4): 741-745. doi:10.1093/rheumatology/ket400. 22. Yolbas I, Ozen F, Kocak N, Kelekci S, Gunes A, Yel S. The frequency of MEFV gene mutation in patients admitted to hospital with preliminary diagnosis of familial mediterranean fever who undergone a prior appendectomy. Eur Rev Med Pharmacol Sci. 2012;16(7): 949-951. 23. Sayarlioglu M, Cefle A, Inanc M, Kamali S, Dalkilic E, Gul A, et al. Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: Analysis of 401 cases. Int J Clin Pract. 2005; 59(2): 202-205. 24. Ülgenalp A. The distribution of MEFV of gene Mutations in the referrals to DEGETAM. DEU Med School J. 2009; 23(2): 53-58. 25. Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, et al. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet. 2001; 9(7): 553-555. 26. Topaloglu R, Ozaltin F, Yilmaz E, Ozen S, Balci B, Besbas N, et al. E148Q is a disease-causing MEFV mutation: A phenotypic evaluation in patients with familial Mediterranean fever. Ann Rheum Dis. 2005; 64(5): 750-752.



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