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

Güneşaçar, Ramazan; Çelik, Mine; Arıca, Vefik; Elmacioglu, Sibel; Öztürk, Oktay Hasan

doi:10.1016/j.gene.2014.06.019

Cited by 27 publications

(31 citation statements)

References 40 publications

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“…24,25 E148Q is one of the five most frequent mutations in all reports and it is the second most common mutation in many studies. 23,26,27 In the present study, E148Q was the second most common mutation with the frequency of 26.8%. However, in other previous reports, the E148Q mutation has been found as the most common mutation in FMF patients.…”

supporting

confidence: 51%

“…In previous studies that were performed by Gunesacar et al and Akin et al, the allele frequency of the V726A mutation apprised to be ranged between 1.9% and 13.0%. 26,31 Although V726A was the third most common mutation in several studies, it was the fourth most commonly observed mutation in many studies. 17,23,31,32 Otherwise, V726A is the second most common mutation in Arabs and non-Ashkenazi Jews.…”

Section: 30mentioning

confidence: 99%

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The spectrum of MEFV gene mutations and genotype-phenotype correlation in Egyptian patients with familial Mediterranean fever

et al. 2017

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Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease mainly affecting subjects of the Mediterranean origin. It is an auto-inflammatory periodic disorder that is caused by mutations in the Mediterranean fever gene (MEFV) located on chromosome 16.Methods: The current study was designed to assess the prevalence and frequency of different MEFV gene mutations among 104 FMF clinically diagnosed Egyptian patients and to evaluate the change extent in the values of some biochemical markers (ESR, CRP, Fibrinogen-C, SAA and IL1) in different participants with different FMF severity scores.Results: According to allele status 28 patients (27%) were homozygous mutation carriers, 38 (36.5%) were with compound heterozygous mutations and 38 (36.5%) were identified as heterozygous for one of the studied mutations. Of the studied mutations, M694I, E148Q, V726A, M680I, and M694V accounted for 28.1%, 26.8%, 16.9%, and 11.3% of mutations respectively. The R761H and P369S mutations were rarely encountered mutations (1.4%). The clinical features with M694I were associated with more severe clinical course. There is a drastic elevation in the levels of estimated parameters as their levels were increased as long as the severity of the disease increased.Conclusions: The diagnosis of FMF cannot be performed on the basis of genetic testing or clinical criteria alone. So, we recommended the combination between clinical and molecular profiling for FMF diagnosis and scoring.

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confidence: 51%

Section: 30mentioning

confidence: 99%

The spectrum of MEFV gene mutations and genotype-phenotype correlation in Egyptian patients with familial Mediterranean fever

et al. 2017

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“…In contrast to our study, M694V was the second most commonly observed mutation with 21.34% allele frequency in the southern region of Turkey according to Evliyaoglu et al (2009). However, it was the third frequent mutation in a recent study by Gunesacar et al with allele frequency of 17.35% (Gunesacar et al, 2014). In addition, Gunesacar et al reported that R202Q was the most frequently observed mutation in 427 (21.35%) of 2000 alleles in Hatay province, in the Mediterranean region of Turkey (Gunesacar et al, 2014).…”

Section: Discussionmentioning

confidence: 92%

“…However, it was the third frequent mutation in a recent study by Gunesacar et al with allele frequency of 17.35% (Gunesacar et al, 2014). In addition, Gunesacar et al reported that R202Q was the most frequently observed mutation in 427 (21.35%) of 2000 alleles in Hatay province, in the Mediterranean region of Turkey (Gunesacar et al, 2014). In our study, R202Q was detected in 209 patients with the heterozygous genotype (19.9%), 104 patients with the compound heterozygous (9.8%), 27 patients with the homozygous genotype (2.6%) and 110 patients with the complex genotype (10.4%).…”

Section: Discussionmentioning

confidence: 93%

The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)

Coşkun

Üstyol

Bayram

et al. 2015

Gene

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“…Another study conducted in southeastern Mediterranean region of Turkey (Hatay) announced that using the sequence analyzer in patients with the suspect of FMF among the 16 mutations, the most striking result R202Q (21.35 %) was the most common mutation, whereas less frequent ones were observed as E148Q (8.85 %), M694V (7.95 %), M680I (2.40 %), and V726A (1.85 %) [12]. Tozkır et al reported that in the case of children with FMF according to Tel Hashomer diagnosis criteria, the most frequent mutation types were E148Q and M694V mutations.…”

Section: Discussionmentioning

confidence: 99%

The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey

et al. 2015

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Familial Mediterranean fever (FMF) is defined as an inherited and autosomal recessive disease. Many researches have been done about this subject, and we believe that it should be necessary to focus on phenotype-genotype correlation, especially novel mutation types. We aim to announce the results of FMF sequence analysis in Kahramanmaras/Turkey. The number of participants is 380 males and 451 females who clinically diagnosed as FMF subjects of different age groups. Genomic sequences of exons 2 and 10 and in some cases exon 3 of the MEFV gene were scanned for mutations by sequence analyzer. The most common mutation identified in 230 (57.07 %) patients is heterozygous. The frequencies of mutation types in heterozygous subjects are R202Q (39.13 %), E148Q (18.70 %), M680I (16.52 %), M694V (13.91 %), and V726A (4.78 %), respectively. The most striking point among the compound heterozygous subjects is R202Q/M694V mutation type found at the highest rate (32 subjects). Fever and peritonitis are the most frequent signs of homozygous M694V and combine heterozygous mutations. Interestingly, the rate of homozygous mutation types (M694V/M694V+ R202Q/R202Q) is 96.70 % among all compound homozygous mutation types. The most frequent rate of homozygous patients is M680I mutation types (68.42 % in all homozygous mutation types). Two novel mutations were found in this study: N206K (p.Asn206Lys) and S208T (p.Ser208Tyr). Our findings in this study on the FMF sequence analysis are different from the results obtained from the other regions of Turkey.

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

Cited by 27 publications

References 40 publications

The spectrum of MEFV gene mutations and genotype-phenotype correlation in Egyptian patients with familial Mediterranean fever

The spectrum of MEFV gene mutations and genotype-phenotype correlation in Egyptian patients with familial Mediterranean fever

The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)

The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey

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