TY  - JOUR
TI  - FREQUENCY AND DISTRIBUTION OF MEFV GENE MUTATION IN FAMILIAL MEDITERRANEAN FEVER PATIENTS: A SINGLE CENTER EXPERIENCE
AB  - ObjectiveWe aimed to evaluate frequency and distributionMEFV gene mutation variants in patients with presumptive diagnosis of Familial Mediterranean Fever(FMF). Material and MethodsPatients who had undergone FMF targeted mutationanalysis between September 2018 and September2019 were retrospectively analyzed. Twenty-six distinct MEFV gene mutation variants were studied. Demographic and clinical data of study participants werecollected from patient charts and hospital electronicdatabase system.ResultsOut of 910 referred patients, 350 (38.5%) were foundto have a positive FMF mutation. In total, we detected 41 different genotypes and 26 different mutations in the MEFV gene. The most common mutationand genotype were M694V and heterozygous M694V,respectively. Two hundred and seventy-six patients(78.9%) had a single mutation. Seventy-four patientshad compound heterozygous mutation (21.1%). Themost common compound heterozygous mutationswere P369S/R408Q (23.3%). Five founder mutationsconstituted the seventy-five percent of the all mutations detected. Rare mutations that generally not examined in other studies were present in 15 patients(%4.2) in the form of two different compound heterozygous genotype. The total allele frequency of theserare mutations was 5%.ConclusionIn this study, we examined an extended panel ofMEFV mutations and detected more complex genotypes than most of the previous studies conducted inTurkish patients in the literature.
AU  - ozemri sag, sebnem
AU  - Kaya, Niyazi
AU  - Aliyeva, Lamiya
AU  - ALEMDAR, ADEM
AU  - Temel, Sehime G
DO  - 10.17343/sdutfd.741507
PY  - 2021
JO  - Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi
VL  - 28
IS  - 1
SN  - 1300-7416
SP  - 85
EP  - 91
DB  - TRDizin
UR  - http://search/yayin/detay/456761
ER  -