The Distribution Of Mefv Mutations In Turkish Fmf Patients: Multicenter Study Representing Results Of Anatolia
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Tarih
2019Yazar
YAŞAR BİLGE, N. Şule
SARI, İsmail
SOLMAZ, Dilek
ŞENEL, Soner
EMMUNGİL, Hakan
KILIÇ, Levent
YILMAZ ÖNER, Sibel
YILDIZ, Fatih
YILMAZ, Sedat
ERSÖZLU BOZKIRLI, Duygu
AYDIN TUFAN, Müge
YILMAZ, Sema
YAZISIZ, Veli
PEHLİVAN, Yavuz
BES, Cemal
YILDIRIM ÇETİN, Gözde
ERTEN, Şükran
GÖNÜLLÜ, Emel
ŞAHİN, Fezan
AKAR, Servet
AKSU, Kenan
KALYONCU, Umut
DİRESKENELİ, Haner
ERKEN, Eren
KISACIK, Bünyamin
SAYARLIOGLU, Mehmet
ÇINAR, Muhammed
KAŞİFOĞLU, Timuçin
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Background/aim The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). Conclusion In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.
Bağlantı
http://dx.doi.org/10.3906/sag-1809-100https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7018361/
http://hdl.handle.net/11655/23951