Molecular Diagnosis & Therapy

, Volume 18, Issue 5, pp 549–557 | Cite as

MEFV Mutations in Egyptian Children with Systemic-Onset Juvenile Idiopathic Arthritis

  • Hala M. Lotfy
  • Manal E. Kandil
  • Marianne Samir Makboul Issac
  • Samia Salah
  • Nagwa Abdallah Ismail
  • Mohamed A. Abdel Mawla
Original Research Article

Abstract

Background and Objectives

Systemic-onset juvenile idiopathic arthritis (SoJIA) is a chronic auto-inflammatory disease of childhood, with a complex genetic trait, which is characterized by arthritis associated with systemic manifestations. Familial Mediterranean fever (FMF) is another auto-inflammatory disorder that is monogenic. There are speculations as to whether Mediterranean fever (MEFV) mutations are among the genetic determinants of SoJIA. Our aim was to explore the frequency and clinical significance of MEFV mutations in Egyptian SoJIA patients. A group of healthy children were assigned to the control group in an attempt to estimate the carrier rate of MEFV mutations in Egypt.

Methods

Eighty-four children were recruited in this study; 54 children, age (mean ± standard deviation; 8.31 ± 2.85 years), diagnosed as having SoJIA with no typical symptoms of FMF; 30 healthy age- and gender-matched children served as the control group. All recruited children were screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products.

Results

SoJIA patients had a significantly higher frequency of MEFV mutations (66.7 %) than in the healthy control population (16.7 %). V726A was the leading mutation in SoJIA patients, with an allelic frequency of 15.74 %, followed by E148Q, with an allelic frequency of 7.4 %. Children who were carriers of MEFV mutations had an 18 times higher risk of developing SoJIA than wild-type carriers [odds ratio 18.0 (95 % CI 5–69), P < 0.01]. E148Q was the leading mutation, present in 13.3 % of healthy controls.

Conclusion

These findings suggest that MEFV mutations may be responsible for auto-inflammatory diseases other than FMF, and patients with SoJIA, especially those with a positive family history of FMF or SoJIA, should be screened for MEFV mutations in countries where FMF is frequent.

Notes

Acknowledgments and Disclosures

Special thanks to all Rheumatology Clinic members, who helped us in our work, and to our dear patients, who participated in conducting the study. The authors have no conflicts of interest that are directly relevant to the content of this article.

Supplementary material

40291_2014_105_MOESM1_ESM.docx (19 kb)
Supplementary material 1 (DOCX 19 kb)

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Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  • Hala M. Lotfy
    • 1
  • Manal E. Kandil
    • 2
  • Marianne Samir Makboul Issac
    • 3
  • Samia Salah
    • 1
  • Nagwa Abdallah Ismail
    • 2
  • Mohamed A. Abdel Mawla
    • 2
  1. 1.Department of Pediatrics, Faculty of MedicineCairo UniversityCairoEgypt
  2. 2.Pediatrics DepartmentNational Research CenterCairoEgypt
  3. 3.Department of Clinical and Chemical Pathology, Faculty of MedicineCairo UniversityCairoEgypt

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