Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey

Abstract

ABSTRACT. Familial Mediterranean fever is a recessive autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks. The MEFV gene is responsible for this disease. We looked for MEFV gene variations (polymorphism and mutations) in a population that resides in Central Anatolia, Turkey. DNA was extracted from peripheral blood leukocytes of 802 familial Mediterranean fever patients. The DNA sequence data were examined for approximately 150 different mutations and polymorphisms, including single nucleotide polymorphisms in different exons of the MEFV gene. The male:female ratio of these patients was 1.44:1. Mutations were detected in 48.1% of the patients; 7.5% were homozygous, 11.1% were compound heterozygous and 31.5% had only one identifiable mutant allele. No mutations were detected in 51.9% of the patients. The main clinical characteristics of the patients were: abdominal pain in 20.6%, arthritis in 22.9%

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

“…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.…”

Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations

“…Although we reported one single heterozygous subject with K695R, five recent studies from a different region in Turkey reported a total of 33 subjects (Dundar et al, 2011;Ceylan et al, 2012;Ozdemir et al, 2011;Yesilada et al, 2012;Oztuzcu et al, 2014). In a recent study by Albayrak et al (2010), conducted on the subjects in our region, four symptomatic K695R mutations were reported.…”

“…One heterozygous asymptomatic subject was the mother of a symptomatic compound heterozygous subject. Giaglis et al (2007) and Ceylan et al (2012) reported only one symptomatic homozygous T267I form. L110P was described as a common symptomatic mutation in Japan, as is the case for M694I (Migita et al, 2012;Tomiyama et al, 2008).…”

“…We screened two symptomatic E167D compound heterozygous subjects with an M694V mutation. Giaglis et al (2007) and Ceylan et al (2012) reported a total of six E167D mutations in their studies, and all of these were symptomatic for FMF.…”

“…We detected four compound heterozygous and two single heterozygous forms of E148V in six subjects; only one heterozygous subject was nonsymptomatic. Ceylan et al (2012) sequencing of the MEFV gene. They described some rare mutations in different exons, but they did not define the E148V and L110P mutations that we found in our study.…”