P01-006 – MEFV mutation detection in Arabic patients

R Taha,S Ayesh,M Kambouris,H El-Shanti

doi:10.1186/1546-0096-11-s1-a10

Abstract

Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T-cells. Familial Mediterranean fever (FMF) is the archetypal hereditary periodic fever syndrome and autoinflammatory disorder. It is characterized by recurrent self-limiting episodes of fever and painful polyserositis. FMF is an autosomal recessive disorder, with considerable prevalence in specific ethnic groups, namely, non-Ashkenazi Jews, Armenians, Turks and Arabs and the FMF carrier rate can be as high as one in four. The gene responsible for FMF, MEFV, is located on the short arm of human chromosome 16, and was independently identified by two positional cloning consortia. Mutations, as well as, polymorphisms in MEFV are continuously identified. In Arabic FMF patients the spectrum and distribution of MEFV mutations are distinctive and the portion of unidentified mutations is undoubtedly the highest amongst the groups commonly affected by FMF. The comprehensive identification of MEFV mutant alleles among FMF patients is needed for the efficient examination of specific genotype – phenotype correlation patterns and for the development of molecular tools to support the clinical diagnosis.

Highlights

Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T-cells
We did not identify any mutations by sequencing MEFV exons and splice sites, as well as putative regulatory regions
It has been suggested that the reduced identification of MEFV mutant alleles in Arabic patients is due to the lack of application of a comprehensive mutation detection methodology

Summary

Introduction

Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T-cells. Familial Mediterranean fever (FMF) is the archetypal hereditary periodic fever syndrome and autoinflammatory disorder. It is characterized by recurrent selflimiting episodes of fever and painful polyserositis. FMF is an autosomal recessive disorder, with considerable prevalence in specific ethnic groups, namely, non-Ashkenazi Jews, Armenians, Turks and Arabs and the FMF carrier rate can be as high as one in four. The gene responsible for FMF, MEFV, is located on the short arm of human chromosome 16, and was independently identified by two positional cloning consortia. As well as, polymorphisms in MEFV are continuously identified. The comprehensive identification of MEFV mutant alleles among FMF patients is needed for the efficient examination of specific genotype – phenotype correlation patterns and for the development of molecular tools to support the clinical diagnosis

Objectives

Results

Conclusion