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 page: 23 download article in pdf format
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Abstract
The aim of the current study was to determine the
frequency of the Mediterranean fever (MEFV) gene pathogenic
variants in 60 children diagnosed with familial Mediterranean
fever (FMF) and to compare the phenotypegenotype
correlation. Genomic DNA was isolated by
the spin-column method from peripheral blood samples
(collected in vacutainers containing EDTA) and buccal
smears. The MEFV gene profiles for the current FMF cohort
were genotyped by pyrosequencing and direct Sanger
sequencing techniques for the target pathogenic variants.
The most prominent clinical symptoms were abdominal
pain (53.4%), fever (23.4%) and arthritis (23.3%). Eighteen
different pathogenic variants were identified and the
most frequent were p.Met694Val (20.0%), p.Glu148Gln
(13.3%), p.Met680 Ile (11.7%) and p.Arg202Gln (11.7%).
Abdominal pain, fever and arthritis were the most common
presenting clinical characteristics. Results showed that not
only clinical characteristics, but also genotyping of the
MEFV gene is needed to establish the correct diagnosis
of FMF in children and other family members.
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