Allelefrequencies 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,
📌 3 Key Takeaways
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Objective & Hypothesis:Background/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF)patients varies according to geographic area of Turkey.
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Key Findings & Data:The aimof our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenterstudy.Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country,were evaluated retrospectively.
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 aimof our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenterstudy.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 in413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allelefrequencies 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,
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Cite This Article
DİRESKENELİ, H., KILIÇ, L., KALYONCU, U., AKSU, K., YILDIZ, F., BES, C., YAZISIZ, V., GÖNÜLLÜ, E., SOLMAZ, D., YILMAZ, S., ÇETİN, G. Y., EMMUNGİL, H., AKAR, S., KAŞİFOĞLU, T., YILMAZ, S., PEHLİVAN, Y., SARI, İ., ERTEN, Ş., ŞENEL, S., ŞAHİN, F., Y, S. (2022). The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia. Turkish Journal of Medical Sciences, Cilt: 49 - Sayı: 2, 472–477. https://ajindex.com/articles/609901
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