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

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.

Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V)

“…In the previous studies from Turkey, the frequency of E148Q mutation was found to range between 1.36 and 30.8%. In agreement with our study, it was found as the second most commonly seen mutation in many studies from Turkey (Akin et al, 2010;Dogan et al, 2012;Etem, 2010;Gulec et al, 2012;Ozturk et al, 2008;Pasa et al, 2008;Solak et al, 2008;Ulgenalp, 2009), whereas it was found as the most commonly seen mutation in the study by Evliyaoglu et al (2009) and by Yesilada et al (2012), with allele frequencies of 30.8% and 10.38%, respectively. E148Q mutation was the third most commonly observed mutation in the study by Ceylan et al (2012) and by Dundar et al (2011) with the allele frequencies of 4.42 and 5.15%, respectively.…”

“…Study Group, 2005;Yalcinkaya et al, 2000;Akin et al, 2010;Ceylan et al, 2012;Dogan et al, 2012;Etem, 2010;Pasa et al, 2008;Yilmaz et al, 2001). It is the most frequently seen mutation in populations where FMF is prevalent including Iranian Azerbaijani Turks (Bonyadi et al, 2009), Jews (Ben-Chetrit et al, 2000Dode et al, 2000), Arabs (Al-Alami et al, 2003;Ayesh et al, 2005;Belmahi et al, 2012;Gershoni-Baruch et al, 2001;Majeed et al, 2005;Mattit et al, 2006;Medlej-Hashim et al, 2000 and Armenians (Cazeneuve et al, 1999;Sarkisian et al, 2005).…”

Three Family Members with Familial Mediterranean Fever Carrying the M694V Mutation Showed Different Clinical Presentations

“…The most frequent mutations (M680I, M694V, V726A, M694I and E148Q) are found in more than two-thirds of cases. Genotype-phenotype correlation, thoroughly studied over the past few years, suggests that mutations located within the mutational hotspots in codons 680 and 694 are associated with severe disease, early onset, high frequency of attacks, the necessity of a high dose of colchicine to control attacks, and frequent occurrence of amyloidosis in untreated cases (6).…”

Comparison of Levels in Preterm and Term Neonates Mean Platelet Volume

“…Preterm yenidoğanlarda MPV değerinin yük-sek olması kanama riskinin azaltılması açısından yardımcı bir faktör olacaktır. Respiratuar distres sendromu (RDS), akut pankreatit, sepsis ve ailevi akdeniz ateşi gibi birçok hastalığın MPV ile ilişkisi araştı-rılmıştır [7][8][9][10]. MPV'nin diğer enflamasyon belirteçleri ile birlikte kullanılabilecek hızlı, pratik ve ek bir maliyet getirmeyen bir belirteç olduğu gösterilmiştir.…”