Alta frecuencia de variación de la secuencia de la mutación E148Q en niños con fiebre mediterránea familiar en el sureste de Turquía

Uluca, Ünal; Ece, Aydın; Şen, Velat; Coşkun, Salih; Güneş, Ali; Yel, Servet; Tan, İlhan; Karabel, Müsemma; Şahin, Cahit

doi:10.5546/aap.2015.133

Cited by 5 publications

(2 citation statements)

References 26 publications

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“…FMF, an autoinflammatory disease, is very common in Turkey. [ 22 ] Although it is accepted as an autosomal recessive disease, there are a great number of patients who do not have any MEFV gene mutations. [ 19 ] Thus, findings have been reported which implicate that pathological factors in genetic-negative patients may be effective in the appearance of this disease.…”

Section: Discussionmentioning

confidence: 99%

“…[ 21 ] The most frequently reported mutations in Turkey were M694V, V726A, M680I, E148Q, R761H, and P369S. [ 22 ] The frequency of these mutations in FMF patients is much higher when compared with other mutations. These studies showed that the 12 MEFV gene mutations scanned can make up a great majority (at least 95%) of MEFV gene mutations that may be seen in a population.…”

Section: Introductionmentioning

confidence: 99%

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Is there any relationship between human foamy virus infections and familial Mediterranean fever?

2018

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Background:Familial Mediterranean fever (FMF) is generally defined as an autosomal recessive disease, characterized by the automatic activation of the innate immune system in the absence of a detectable pathogenic stimulant. We hypothesize that the pathogenic factors, besides the genetic causes, may affect the development of FMF symptoms. To test this hypothesis, we examined the effects of human foamy virus (HFV) positivity on the occurrence of the clinical symptoms of FMF.Materials and Methods:Two hundred and twenty-two FMF patients with definitive diagnosis according to Tel Hashomer criteria (study group 1 [SG1]), 205 symptomatic FMF patients who had definitive diagnosis according to the same criteria but did not carry any of the 12 most commonly occurring MEFV gene mutations (study group 2 [SG2]), and 200 healthy individuals were included as control group (study group 3 [SG3]) in the study. The genetic analysis was applied in the Molecular Genetics Laboratory of the Department of Medical Biology, Faculty of Medicine, Ondokuz Mayıs University. This study was designed as a case-control study. HFV positivity was tested by amplifying the HFV bel1 gene sequence with polymerase chain reaction technique. Statistical analyses were conducted using SPSS version 23.0 software.Results:HFV positivity showed significant differences between the study groups (P = 0.002). While 43 (19.02%) of the 222 SG1 patients were positive for the HFV bel1 gene sequence, 33 (16.09%) of the 205 SG2 patients were positive for the same sequence. Only 15 (7.5%) of the SG3 participants were positive for the presence of HFV bel1 gene sequence.Conclusion:The results of our study suggested that HFV positivity can be a stimulant pathogenic factor of natural immune system which can cause the emergence of FMF symptoms.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Is there any relationship between human foamy virus infections and familial Mediterranean fever?

2018

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Frequency of mutations in Mediterranean fever gene, with gender and genotype–phenotype correlations in a Turkish population

Coşkun

Kurtgöz

Keskin

et al. 2015

J Genet

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Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever, abdominal pain, synovitis and pleurisy. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations and to investigate the clinical characteristics and genotype-phenotype correlation in patients with FMF in Aydin, a province in western Anatolia, Turkey. Therefore, we retrospectively analysed MEFV gene mutations in 383 patients with suspected FMF and the clinical features of 327 among them. The MEFV gene mutations were investigated using the reverse dot-blot hybridization technique. We detected 26 different genotypes and 11 different mutations. The most common mutations in our cohort were p.M694V (41.15%), p.E148Q (20.35%), p.M680I(G/C) (12.39%) and p.R761H (9.73%). Abdominal pain (86.2%), fever (80.7%), arthralgia (57.2%), vomiting (36.1%), arthritis (34.6%), fatigue (31.5%), anorexia (22.9%) and chest pain (19.0%) were the most prevalent clinical features in our patients. This is the first study from Aydin in which the distribution of MEFV gene mutations and clinical features were evaluated in patients with FMF. We found that the most common mutation was p.M694V in our region, while the frequency of the p.R761H mutation was higher compared to other regions of Turkey with respect to extracted data from previous similar studies. Presented results supported the clinical findings in the literature that the homozygous p.M694V and compound heterozygous genotype were associated with more severe courses in FMF patients.

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Deficiencia de mevalonato quinasa (síndrome de hiper-IgD) y solapamiento con mutación de fiebre mediterránea familiar

Robles

Callizo

Sanchinel

et al. 2017

Reumatología Clínica

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Alta frecuencia de variación de la secuencia de la mutación E148Q en niños con fiebre mediterránea familiar en el sureste de Turquía

Abstract: Alta frecuencia de variación de la secuencia de la mutación E148Q en niños con fiebre mediterránea familiar en el sureste de Turquía High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey

Cited by 5 publications

References 26 publications

Is there any relationship between human foamy virus infections and familial Mediterranean fever?

Is there any relationship between human foamy virus infections and familial Mediterranean fever?

Frequency of mutations in Mediterranean fever gene, with gender and genotype–phenotype correlations in a Turkish population

Deficiencia de mevalonato quinasa (síndrome de hiper-IgD) y solapamiento con mutación de fiebre mediterránea familiar

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