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Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance

  • Original Article
  • Published:
Modern Rheumatology

Abstract

The aim of our study was to determine the spectrum of the 12 most common familial Mediterranean fever gene (MEFV) mutations in Iranian patients with heterogeneous ethnicity, using the familial Mediterranean fever (FMF) strip assay test. A total of 36 patients were diagnosed according to established clinical criteria. Genomic DNA from all patients was tested for 12 common mutations located in exon 2 (E148Q), 3 (P369S), 5 (F479L), 10 [M680I (G>C), M680I (G>A), I692del, M694V, M694I, K695R, V726A, A744S, R761H], respectively, using the FMF strip assay test. Of the 35 patients with mutations, ten were homozygote, 20 were compound heterozygote, and five were heterozygote. The most frequent genotype was M680I/M680I (6 patients, 16.7%). The most frequent mutation was M680I, followed by M694V, and V726A. The FMF strip assay test for common these 12 mutations was positive in 90.6% of alleles in this study, indicating that it appears to be an effective method for FMF mutation screening in Iranian patients.

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Acknowledgments

We acknowledge research support provided by Dr. Mohammad Hassan Moradinejad in identifying the cases, by Dr. Yazaki (from Japan) for his advice, and Sara Goltash (from Canada) for her grammatical check of the manuscript.

Conflict of interest statement

None.

Author information

Authors and Affiliations

  1. Department of Rheumatology, Iran University of Medical Sciences, Tehran, Iran

    Ali Bidari

  2. Department of Rheumatology, Razi Hospital, Guilan University of Medical Sciences, Sardar Jangal St., 41448-95655, Rasht, Guilan, Iran

    Banafsheh Ghavidel-Parsa

  3. Department of Genetics, Iranian Welfare and Rehabilitation University, Tehran, Iran

    Hossein Najmabadi

  4. Department of Pediatric Gastroentrology, Iran University of Medical Sciences, Tehran, Iran

    Elham Talachian

  5. Tehran, Iran

    Majid Haghighat-Shoar

  6. Department of Nephrology, Iran University of Medical Sciences, Tehran, Iran

    Behrooz Broumand

  7. Department of Allergy and Clinical Immunology, Iran University of Medical Sciences, Tehran, Iran

    Babak Ghalehbaghi

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  1. Ali Bidari
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  2. Banafsheh Ghavidel-Parsa
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  3. Hossein Najmabadi
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  7. Babak Ghalehbaghi
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Correspondence to Banafsheh Ghavidel-Parsa.

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Bidari, A., Ghavidel-Parsa, B., Najmabadi, H. et al. Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance. Mod Rheumatol 20, 566–572 (2010). https://doi.org/10.1007/s10165-010-0317-3

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  • DOI: https://doi.org/10.1007/s10165-010-0317-3

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