Pediatric Rheumatology

, 11:A73 | Cite as

PW01-020 – MEFV mutations carrier rate in Central Europe

  • M Debeljak
  • N Toplak
  • N Abazi
  • M Kolnik
  • B Szabados
  • V Mulaosmanovic
  • J Radović
  • J Vojnović
  • T Constantin
  • D Kuzmanovska
  • T Avčin
Open Access
Meeting abstract
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Keywords

Mutation Carrier Familial Mediterranean Fever Heterozygous Mutation Carrier Rate Recurrent Attack 

Introduction

Familial Mediterranean fever (FMF) is an autosomal-recessive disorder characterized by recurrent attacks of fever and serositis common in eastern Mediterranean population. Over 160 mutations have been identified in MEFV gene responsible for FMF. The most common mutations in MEFV gene are E148Q, M694I, M694V, V726A and M680I. The distribution pattern of MEFV mutation along the Mediterranean Sea is not uniform; eastern populations have the highest number of carriers (20-39%), whereas western Mediterranean populations are practically unaffected.

Objectives

The aim of this study is to determine the carrier rate in healthy Macedonian, Serbian, Slovene, Bosnian and Hungarian population.

Methods

We screened 100 healthy subjects from all 5 populations. Exon 10 was PCR amplified and screening was performed with dHPLC. All amplicons with detected nucleotide changes were subsequently sequenced with ABI prism 310 genetic analyzer. Amplicons of exon 2 were directly sequenced.

Results

Heterozygous mutations were found in 4% of apparently healthy Hungarians, 7% of Slovenians, 8% of Bosnians, 11% of Serbians and in 16% of apparently healthy Macedonians. Mutations found in Hungarian population were as follows: V726A (1), K695R (3). Mutations found in Slovenian population were: V726A (1), K695R (5) and E148Q (1). Mutations found in Bosnian population were: V726A (1), K695R (6) and F756C (1). Mutations found in Serbian population were: E148Q (6), K695R (5). Mutations found in Macedonian population were as follows: E148Q (8), K695R (7) and M694V (1).

Conclusion

We found higher than expected carrier rate in all populations, from 4% to 16%. It is interesting to note that more than half (60%) of detected carriers in all analyzed populations has K695R mutation.

Disclosure of interest

None declared

Copyright information

© Debeljak et al; licensee BioMed Central Ltd. 2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Authors and Affiliations

  • M Debeljak
    • 1
  • N Toplak
    • 2
  • N Abazi
    • 3
  • M Kolnik
    • 4
  • B Szabados
    • 5
  • V Mulaosmanovic
    • 6
  • J Radović
    • 7
  • J Vojnović
    • 7
  • T Constantin
    • 5
  • D Kuzmanovska
    • 3
  • T Avčin
    • 2
  1. 1.Center for Medical GeneticsUniversity Children's Hospital, University Medical CenterLjubljanaSlovenia
  2. 2.Department of Allergology, Rheumatology and Clinical ImmunologyUniversity Children's Hospital, University Medical CenterLjubljanaSlovenia
  3. 3.University Children Hospital, Medical Faculty, Ss. Cyril and Methodius UniversitySkopjeMacedonia, the Former Yugoslav Republic of
  4. 4.Department of Allergology, Rheumatology and Clinical ImmunologyUniversity Children's Hospital, University Medical CenterLjubljanaSlovenia
  5. 5.Unit of Paediatric Rheumatology, 2nd Department of PediatricsSemmelweis University BudapestBudapestHungary
  6. 6.Clinical CenterChildren’s Hospital UniversitySarajevoBosnia and Herzegovina
  7. 7.Department of Pediatric Rheumatology, Faculty of MedicineUniversity NišNišSerbia

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