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MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever

M Bonyadi1, M Esmaeili, H Jalali

  • 1Center of Excellence for Biodiversity, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran. Jabbarpour@tabrizu.ac.ir

Clinical Genetics
|October 30, 2009
PubMed

Insights

This study identified common MEFV gene mutations in Iranian Azeri Turkish patients with Familial Mediterranean fever (FMF). The p.M694V mutation was most frequent, highlighting the need to include p.R761H in routine FMF genetic testing for this population.

Area of Science:

  • Genetics
  • Molecular Biology
  • Autoinflammatory Diseases

Background:

  • Familial Mediterranean fever (FMF) is an inherited autoinflammatory condition.
  • Over 60 mutations in the MEFV gene are linked to FMF.
  • Understanding ethnic-specific mutation profiles is crucial for accurate diagnosis.

Purpose of the Study:

  • To determine the frequency and spectrum of 15 known MEFV gene mutations in Iranian Azeri Turkish FMF patients.
  • To identify common and rare mutations within this specific ethnic group.
  • To inform genetic screening and diagnostic strategies for FMF in the Azeri Turkish population.

Main Methods:

  • Genotyping of 524 unrelated FMF patients of Iranian Azeri Turkish descent.
  • Utilized amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
  • Analyzed 15 predefined mutations within the MEFV gene.

Main Results:

  • Identified 35 distinct genotypes among the patients.
  • The most prevalent MEFV mutations were p.M694V (42.4%), p.V726A (17%), p.E148Q (16.2%), and p.M680I (c.2040G>C) (15.2%).
  • The p.R761H mutation (4.7%) was the most common among rare mutations, and five complex alleles were identified.

Conclusions:

  • Significant diversity in MEFV mutations exists within the Iranian Azeri Turkish FMF cohort.
  • The p.R761H mutation shows notable prevalence in this ethnic group and warrants inclusion in routine molecular diagnostics.
  • This data aids in refining genetic testing protocols for FMF in specific populations.

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