Turkish Journal of Medical Sciences
DOI
10.3906/sag-1809-100
Abstract
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 stu dy.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,
Keywords
Familial Mediterranean fever, Mediterranean fever gene mutations, M694V, Turkey
First Page
472
Last Page
477
Recommended Citation
BİLGE, NAZİFE ŞULE YAŞAR; SARI, İSMAİL; SOLMAZ, DİLEK; ŞENEL, ABDURRAHMAN SONER; EMMUNGİL, HAKAN; KILIÇ, LEVENT; ÖNER, SİBEL YILMAZ; YILDIZ, FATİH; YILMAZ, SEDAT; ERSÖZLÜ, EMİNE DUYGU; TUFAN, MÜGE AYDIN; YILMAZ, SEMA; YAZISIZ, VELİ; PEHLİVAN, YAVUZ; and BES, CEMAL
(2019)
"The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia,"
Turkish Journal of Medical Sciences: Vol. 49:
No.
2, Article 4.
https://doi.org/10.3906/sag-1809-100
Available at:
https://journals.tubitak.gov.tr/medical/vol49/iss2/4
