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Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation

Rami A Jarjour1

  • 1Clinical Genetics Unit, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria, Damascus, Syria. scientific@aec.org.sy

Molecular Biology Reports
|March 3, 2009
PubMed

Insights

Familial Mediterranean fever (FMF) is caused by MEFV gene mutations. This study found common mutations like M694V in Syrian patients and linked M694V to severe disease, suggesting potential new mutations.

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Medicine

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder.
  • Recurrent episodes of fever, abdominal pain, synovitis, and pleuritis characterize FMF.
  • Mutations in the Mediterranean fever (MEFV) gene are the primary cause of FMF.

Purpose of the Study:

  • To determine the frequency and distribution of 12 known MEFV gene mutations in 153 Syrian FMF patients.
  • To investigate genotype-phenotype correlations within this patient cohort.
  • To identify potential novel MEFV mutations contributing to FMF.

Main Methods:

  • Genetic analysis of 153 Syrian patients diagnosed with FMF.
  • Screening for 12 specific MEFV gene mutations.
  • Correlation of identified MEFV genotypes with clinical FMF phenotypes.

Main Results:

  • A high mutation detection rate, with 97 out of 153 patients (63.4%) carrying at least one MEFV mutation.
  • The most prevalent mutations identified were M694V (36.5%), V726A (15.2%), E148Q (14.5%), M680I (G/C) (13.2%), and M694I (10.2%).
  • The M694V mutation was significantly associated with a more severe clinical presentation of FMF.

Conclusions:

  • The study highlights the genetic landscape of FMF in the Syrian population, with specific MEFV mutations being common.
  • The M694V mutation is a key genetic factor associated with disease severity in Syrian FMF patients.
  • A notable proportion of patients with FMF lacked identified mutations or had only one known mutation, suggesting the existence of novel MEFV mutations requiring further investigation.

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