Familial Mediterranean Fever: A Retrospective Clinical and Molecular Study in the East of Anatolia Region of Turkey



Ebru Etem*, Sukriye Derya Deveci, Deniz Erol, Huseyin Yuce, Halit Elyas
Hüseyin Yüce Firat University, Firat Medical Center, Medical Biology and Genetic Department, 23119, Elazig, Turkey


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© Etem et al.; Licensee Bentham Open

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

* Address correspondence to this author at the Firat University, Firat University Hospital, Medical Biology and Genetic Department, 23119, Elazig, Turkey; Tel; +9004242370000/4656; E-mail: ebruetem@gmail.com


Abstract

Familial Mediterranean Fever (FMF) is an autoinflammatory periodic disorder. We aim to identify the distribution and the frequency of the Mediterranean Fever (MEFV) gene mutations in the east of Anatolia in Turkey and perform a genotype/phenotype correlation in the patients’ cohort. The study was carried out on 415 clinically diagnosed Turkish FMF patients and 103 healthy controls. The tested individuals were screened for the most common twelve MEFV mutations. The most important features were the predominance of the M694V and E148Q mutations in patient group and the earlier of onset of the disease in M694V mutation carriers compared with the carriers of other mutations (P=0.00). We discuss the high frequency of E148Q mutations in patient group compared with controls, genetic counseling in intermarriage families and the variations in mutation frequency according to regions of Turkey.

Keywords: Familial mediterranean fever, mutation screening, genetic counseling, M694V mutation..