MEFV-Mutationsspektrum bei familiärem Mittelmeerfieber (FMF)

Monozentrische Studie aus der türkischen Ägäisregion
  • I. Coker
  • A. Colak
  • I. Yolcu
  • H. Türkön
  • S.M. Nalbantoglu
Originalien

Zusammenfassung

Ziele

Das familiäre Mittelmeerfieber („familial mediterranean fever“, FMF) ist eine autosomal-rezessive autoinflammatorische Erkrankung, bei der es zu rezidivierenden, selbstlimitierenden Phasen mit Fieber und Serositis kommt und die in Mittelmeerregionen häufig vorkommt. Wir untersuchten retrospektiv die Verteilung der MEFV-Genmutation bei 833 Einwohnern der Ägäisregion mit der vorläufigen Diagnose FMF, die in den Jahren 2006 bis 2009 an das Labor für Typisierung und Molekulardiagnostik am Tepecik Research and Education Hospital (Izmir, Türkei) überwiesen worden waren.

Methoden

Um die 12 häufigsten MEFV-Mutationen bei FMF-Patienten zu bestimmen, wurde der FMF-Strip-Assay® (ViennaLab Diagnostics, Wien, Österreich) verwendet.

Ergebnisse

Die Allelfrequenzen der Hauptmutationen in den mutationspositiven Gruppen, einschließlich M694V, E148Q, M680I(G>C) und V726A, waren 48,4, 16,5, 13,5 bzw. 9,7%.

Schlussfolgerung

Die M694V-Mutation erwies sich als die am häufigsten auftretende Mutation bei FMF-Patienten aus der Ägäisregion. Dies stimmt überein mit Mutationsstudien aus anderen Regionen in der Türkei und an unterschiedlichen ethnischen Kollektiven.

Schlüsselwörter

Familiäres Mittelmeerfieber MEFV-Gen Mutation Türkei Ägäisregion 

MEFV gene mutation spectrum in familial Mediterranean fever (FMF)

A single center study in the Aegean region of Turkey

Abstract

Objectives

Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disorder, is characterized by recurrent, self-limiting fever and serositis which is frequently seen in Mediterranean populations. In this study, we retrospectively evaluated the MEFV gene mutation distribution of 883 citizens of the Aegean region with preliminary diagnosis of FMF who were referred to the Tepecik Research and Education Hospital’s Tissue Typing and Molecular Diagnostic Laboratory (Izmir, Turkey) between 2006 and 2009.

Methods

The FMF Strip Assay® (ViennaLab Diagnostics, Vienna, Austria) was used to determine the 12 most common MEFV gene mutations in patients prediagnosed with FMF.

Findings

Allelic frequencies of the major mutations in the mutation positive groups, including M694V, E148Q, M680I(G>C), and V726A, accounted for 48.4, 16.5, 13.5, and 9.7%, respectively.

Conclusion

The M694V mutation was found to be the most common mutation among FMF patients in the Aegean region, which is in accordance with mutation studies reported from other regions of the country and different ethnic populations.

An English full-text version of this article is available at SpringerLink as supplemental.

Keywords

Familial Mediterranean fever MEFV gene Mutation Turkey Aegean region 

Supplementary material

393_2011_751_MO1_ESM.pdf (292 kb)
English full-text Version of "MEFV gene mutation spectrum in familial Mediterranean fever (FMF). A single center study in the Aegean region of Turkey" (PDF 0,3 MB)

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • I. Coker
    • 1
  • A. Colak
    • 1
  • I. Yolcu
    • 1
  • H. Türkön
    • 1
  • S.M. Nalbantoglu
    • 2
  1. 1.Ministry of Health, Department of Clinical BiochemistryTepecik Research HospitalIzmirTurkey
  2. 2.Department of Pediatrics Molecular Medicine LaboratoryEge University Faculty of MedicineIzmirTurkey

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