Volume 3, Issue 5, October 2015, Page: 50-52
Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever
Mohammed J. Ashour, Department of Medical Laboratory Sciences, Faculty of Health Sciences, the Islamic University of Gaza, Gaza, Palestine
Fadel A. Sharif, Department of Medical Laboratory Sciences, Faculty of Health Sciences, the Islamic University of Gaza, Gaza, Palestine
Received: Aug. 26, 2015;       Accepted: Sep. 6, 2015;       Published: Sep. 14, 2015
DOI: 10.11648/j.ijgg.20150305.12      View  4517      Downloads  150
Familial Mediterranean fever (FMF) is an autosomal recessive inflammatory disorder caused by mutations in the MEFV gene that encodes the pyrin protein. The disease is relatively common among people originating from the Mediterranean areas. The aim of this study was to determine the common MEFV gene mutations in 270 Palestinian patients diagnosed with FMF. The patients were screened for four common MEFV gene mutations namely, p.M694V, p.M694I, p.V726A, and p.E148Q using allele-specific polymerase chain reaction (AS-PCR). The results revealed that around 22% of the patients harbored two MEFV mutations, with the compound heterozygous forms being more prevalent than the homozygous ones. The most frequently encountered mutant allele was p.M694V which existed in around 12% of the tested chromosomes. The p.M694I, p.V226A and p.E148Q mutations were observed in around 9, 9 and 7% of the tested chromosomes, respectively. In about 29% of the patients only one mutant allele could be detected and around 49% of the patients did not show any of the investigated mutations. In conclusion, the four tested MEFV gene mutations have a significant contribution to FMF in the Palestinian population of Gaza strip. Screening for those mutations should be offered to FMF patients to confirm diagnosis and effect timely treatment. Further mutations analysis the MEFV gene should be conducted in this population in order to document additional MEFV mutations.
FMF, MEFV Gene, Mutation, AS-PCR, Gaza Strip-Palestine
To cite this article
Mohammed J. Ashour, Fadel A. Sharif, Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever, International Journal of Genetics and Genomics. Vol. 3, No. 5, 2015, pp. 50-52. doi: 10.11648/j.ijgg.20150305.12
Aksentijevich I, Torosyan Y, Samules J, Centola M, Pras E, Chae J. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet. 1999; 64(4): 949–962.
Ayesh SK, Nassar SM, Al-Sharef WA, Abu-Libdeh BY, Darwish HM. Genetic screening of familial Mediterranean fever mutations in the Palestinian population. Saudi Med J. 2005; 26(5): 732-737.
Balci B, Tinaztepe K., Yilmaz E, Gucer S, Ozen S, Topaloglu R, Besbas N, Ozguc M¸ Bakkaloglu A. MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. Nephrol Dial Transplant 2002; 17: 1921–1923.
Belmahi L, Cherkaoui IJ, Hama I, Sefiani A. MEFV mutations in Moroccan patients suffering from familial Mediterranean fever. Rheumatol Int. 2012; 32:981–984.
Ben Chetrit, E., S. Urieli Shoval, S. Calko, D. Abeliovich, Y. Matzner. Molecular diagnosis of FMF. Lessons from a study of 446 unrelated individuals. Clin. Exp. Rheumatol. 2002; 20: S25-29.
Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM, Barron KS, Holland SM, Kastner DL, Aksentijevich I. Familial Mediterranean fever with a single MEFV mutation. Where is the second hit? Arthritis Rheum. 2009; 60(6): 1851–1861.
Ece A, Cakmak E, Uluca U, Kelekci S. The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey. Rheumatol Int. 2014; 34(2): 207-212.
Kishida D, Nakamura A, Yazaki M, Tsuchiya-Suzuki A, Matsuda M, Ikeda S. Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. Arthritis Res Ther. 2014; 16:439-448.
Livneh A, Langevitz P, Shinar Y, et al. MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid 1999; 6:1–6.
Majeed HA, El-Shanti H, Al-Khateeb MS, Abu Rabaiha Z. Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum. 2002; 31(6): 371-376.
Medlej-Hashim M, Serre JL, Corbani S, Saab O, Jalkh N, Delague V, Chouery E, Salem S, Loiselet J, Lefranc G, Megarbane A. Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. Eur J Med Genet. 2005; 48:412–420.
Mohammadnejad L, Farajnia S. Mediterranean fever gene analysis in the Azeri Turk population with familial Mediterranean fever: evidence for new mutations associated with disease. Cell J. 2013; 15(2): 152-159.
Ozen S. Renal amyloidosis in familial Mediterranean fever. Kidney Int. 2004; 65, 1118–1127.
Ozen S. Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? Arthritis Rheum. 2009; 60(6): 1575–1577.
Sarı I, Birlik M, Kasifoğlu T. Familial Mediterranean fever: An updated review. Eur J Rheum 2014; 1: 21-33.
Shohat M and Halpern G. Familial Mediterranean fever—A review. Genet Med. 2011; 13: 487–498.
Solak M, Yildiz H, Koken R, Erdogan M, Eser B, Sen T, Evirgen N, Erdem S, Arikan E. Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever. Genet Test. 2008; 12(3): 341-344.
Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations Eur J Hum Genet. 2001; 9: 473-483.
Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: an evolving mutation database for autoinflammatory syndromes. Hum Mutat. 2004; 24: 194–198.
Touitou I. Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature. J Med Genet. 2013;50(6):349–59.
Uluca U, Ece A, Sen V, Coskun S, Gunes A, Yel S, Tan I, Karabel M, Sahin C. High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey. Arch Argent Pediatr. 2015; 113(2): 133-139.
Yigit S, Bagci H, Ozkaya O, Ozdamar K, Cengiz K, Akpolat T. MEFV Mutations in Patients with Familial Mediterranean Fever in the Black Sea Region of Turkey. The J. Rheumatol. 2008; 35:1.
Browse journals by subject