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Common Familial Mediterranean Fever gene mutations in a Turkish cohort

Munis Dundar1, Elif Funda Emirogullari, Aslihan Kiraz

  • 1Department of Medical Genetics, Erciyes University Medicine Faculty Kayseri, 38039 Kayseri, Turkey. dundar@erciyes.edu.tr

Molecular Biology Reports
|December 15, 2010
PubMed

Insights

Familial Mediterranean Fever (FMF) is a genetic disorder. This study identified 12 MEFV gene mutations in 2,067 patients from Middle Anatolia, with M694V being the most frequent.

Area of Science:

  • Genetics
  • Autoinflammatory Diseases
  • Molecular Biology

Background:

  • Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder.
  • The MEFV gene, encoding pyrin, is responsible for FMF and primarily affects specific ethnic groups.

Purpose of the Study:

  • To identify MEFV gene mutations in patients suspected of FMF in Middle Anatolia.
  • To analyze the frequency and distribution of MEFV mutations in this population.

Main Methods:

  • Enrolled 2,067 unrelated patients with suspected FMF.
  • Utilized Polymerase Chain Reaction (PCR) and reverse hybridization for MEFV mutation detection.
  • Analyzed mutation types including homozygous, compound heterozygous, and heterozygous.

Main Results:

  • Identified 12 MEFV mutations in 1,044 (50.5%) patients.
  • No mutation was detected in 1,023 (49.5%) patients.
  • The most frequent mutations were M694V, M680I (G/C), E148Q, and V726A.

Conclusions:

  • High incidence of MEFV gene mutations in the Turkish population suggests potential for newborn screening.
  • Further large-scale analyses are needed to investigate mutation rates and coexistence due to Anatolia's ethnic diversity.

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