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Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever

Received: 26 August 2015     Accepted: 6 September 2015     Published: 14 September 2015
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Abstract

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.

Published in International Journal of Genetics and Genomics (Volume 3, Issue 5)
DOI 10.11648/j.ijgg.20150305.12
Page(s) 50-52
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2015. Published by Science Publishing Group

Keywords

FMF, MEFV Gene, Mutation, AS-PCR, Gaza Strip-Palestine

References
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[2] 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.
[3] 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.
[4] Belmahi L, Cherkaoui IJ, Hama I, Sefiani A. MEFV mutations in Moroccan patients suffering from familial Mediterranean fever. Rheumatol Int. 2012; 32:981–984.
[5] 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.
[6] 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.
[7] 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.
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[9] 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.
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[12] 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.
[13] Ozen S. Renal amyloidosis in familial Mediterranean fever. Kidney Int. 2004; 65, 1118–1127.
[14] 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.
[15] Sarı I, Birlik M, Kasifoğlu T. Familial Mediterranean fever: An updated review. Eur J Rheum 2014; 1: 21-33.
[16] Shohat M and Halpern G. Familial Mediterranean fever—A review. Genet Med. 2011; 13: 487–498.
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[18] Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations Eur J Hum Genet. 2001; 9: 473-483.
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Cite This Article
  • APA Style

    Mohammed J. Ashour, Fadel A. Sharif. (2015). Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever. International Journal of Genetics and Genomics, 3(5), 50-52. https://doi.org/10.11648/j.ijgg.20150305.12

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    ACS Style

    Mohammed J. Ashour; Fadel A. Sharif. Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever. Int. J. Genet. Genomics 2015, 3(5), 50-52. doi: 10.11648/j.ijgg.20150305.12

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    AMA Style

    Mohammed J. Ashour, Fadel A. Sharif. Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever. Int J Genet Genomics. 2015;3(5):50-52. doi: 10.11648/j.ijgg.20150305.12

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  • @article{10.11648/j.ijgg.20150305.12,
      author = {Mohammed J. Ashour and Fadel A. Sharif},
      title = {Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever},
      journal = {International Journal of Genetics and Genomics},
      volume = {3},
      number = {5},
      pages = {50-52},
      doi = {10.11648/j.ijgg.20150305.12},
      url = {https://doi.org/10.11648/j.ijgg.20150305.12},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20150305.12},
      abstract = {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.},
     year = {2015}
    }
    

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  • TY  - JOUR
    T1  - Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever
    AU  - Mohammed J. Ashour
    AU  - Fadel A. Sharif
    Y1  - 2015/09/14
    PY  - 2015
    N1  - https://doi.org/10.11648/j.ijgg.20150305.12
    DO  - 10.11648/j.ijgg.20150305.12
    T2  - International Journal of Genetics and Genomics
    JF  - International Journal of Genetics and Genomics
    JO  - International Journal of Genetics and Genomics
    SP  - 50
    EP  - 52
    PB  - Science Publishing Group
    SN  - 2376-7359
    UR  - https://doi.org/10.11648/j.ijgg.20150305.12
    AB  - 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.
    VL  - 3
    IS  - 5
    ER  - 

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Author Information
  • Department of Medical Laboratory Sciences, Faculty of Health Sciences, the Islamic University of Gaza, Gaza, Palestine

  • Department of Medical Laboratory Sciences, Faculty of Health Sciences, the Islamic University of Gaza, Gaza, Palestine

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