Balkan Journal of Medical Genetics

THE MEFV GENE PATHOGENIC VARIANTS AND PHENOTYPE-GENOTYPE CORRELATION IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER IN THE ÇANAKKALE POPULATION
Battal F, Silan F, Topaloğlu N, Aylanç H, Yıldırım Ş, Köksal Binnetoğlu F1, Tekin M1, Kaymaz N1, Ozdemir O,
*Corresponding Author: Assistant Professor Dr. Şule Yıldırım, Department of Pediatrics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Terzioğlu Yerleşkesi Ek Bina, 17100, Çanakkale, Turkey. Tel: +90-286-2180018/2107. Fax: +90- 286-263-59-56. E-mail: sule.yildirim@comu.edu.tr
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INTRODUCTION

Familial Mediterranean fever (FMF) is an inherited inflammatory disease that primarily affects patients in the Mediterranean and Middle Eastern populations such as Arabs, Jews, Armenians, Cypriots, Italians, Spaniards and Turks [1-7]. The disease is caused by pathogenic variants in the Mediterranean fever (MEFV) gene and is characterized by short, recurrent episodes of fever accompanied by peritonitis, arthritis or pleuritis and insidious development of systemic amyloidosis. Familial Mediterranean fever is an autosomal recessive disorder but there is also an autosomal dominant form, which is caused by heterozygous pathogenic variants in the MEFV gene [8-12]. Mostly, these symptoms (90.0%) occur in early childhood [2]. The MEFV gene responsible for FMF is on the short arm of chromosome 16, and more than 120 pathogenic variants that are specifically located on exons 2, 5 and 10, have been identified in affected individuals [13-17]. The MEFV gene encodes pyrin, a 781 amino acid protein that plays an important role in innate immunity. It functions via the regulation of interleukin-1β (IL-1β)processing, through binding apoptosis associated with a speck-like protein containing a caspase recruitment domain [5,8]. Some researchers have claimed that homozygous pathogenic variants on both alleles of the MEFV gene play a crucial role in FMF pathogenesis [16,18,19]. Shinar et al. [20] claimed that the pathogenic variant in codon p.Met694Val has more severe clinical implications than p.Val726Ala. From these results, our aim was to compare the minor and/ or major clinical characteristics and common MEFV gene pathogenic variants in children suspected of having FMF in the Çanakkale population.

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