A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients

Dündar, Munis; Kiraz, Aslıhan; Emirogullari, Elif Funda; Saatci, Ccedil Etin; Taheri, Serpil; Başkol, Mevlüt; Polat, Seher; Özkul, Yusuf

doi:10.5144/0256-4947.2012.343

Cited by 9 publications

(3 citation statements)

References 28 publications

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“…In trials conducted in Turkish population, the most common mutations were reported as M694V, E148Q, M680I and V726A [ 8 ]. The last ten years have seen much research into the effect of particular genetic mutations on clinical findings [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

et al. 2015

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BackgroundFamilial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF.MethodsIn this retrospective cross-sectional study conducted with patients’ files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutation types and clinical findings were compared with variance analysis.ResultsThe mean age was 6.9 ± 3.4 years (range, 1.8-11.6 years). The most common symptom was fever (97.3 %). Thirty-four of the patients (6.04 %) were admitted with periodic fever only. Of these patients, M694V was the most common mutation type (73.5 %). The percentage of the patients predominantly presenting with recurrent abdominal pain was 77.78 % and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia was significantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patients homozygous for M694V (61.4 %). Pericardial effusion was documented in the echocardiography of 10.9 % of the 229 children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likely to harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients with homozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients of cases (29.2 %), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-A had homozygous M694V mutation.ConclusionThe most common mutation in children in Turkey with FMF is the M694V mutation. Recurrent abdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients with M694V and E148Q mutations.

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Section: Introductionmentioning

confidence: 99%

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

et al. 2015

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“…The hot spots of the FMF-causing MEFV variants were found on exon 2, at position 148, and on exon 10, at positions 680 and 694 [39,40]. In Turkey, the most frequent mutations are M694V, E148Q, M680I, and V726A [41]. In the Israeli community, the common mutation for non-Ashkenazi Jews is M694V (76.8%) [42] and E148Q for Ashkenazi Jews [43], whilst V726A is the most encountered mutation among Arabs.…”

Section: Genetics and Genotype-phenotype Correlationsmentioning

confidence: 99%

An Update on Familial Mediterranean Fever

Lancieri

Bustaffa

Palmeri

et al. 2023

IJMS

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(1) Background: Familial Mediterranean Fever (FMF) is the prototypal autoinflammatory disease, characterized by recurrent bursts of neutrophilic inflammation. (2) Methods: In this study we look at the most recent literature on this condition and integrate it with novel information on treatment resistance and compliance. (3) Results: The canonical clinical presentation of FMF is in children with self-limited episodes of fever and polyserositis, associated with severe long-term complications, such as renal amyloidosis. It has been described anecdotally since ancient times, however only recently it has been characterized more accurately. We propose an updated overview on the main aspects of pathophysiology, genetics, diagnosis and treatment of this intriguing disease. (4) Conclusions: Overall, this review presents the all the main aspects, including real life outcome of the latest recommendation on treatment resistance of FMF, a disease, that not only helped understanding the pathophysiology of the auto inflammatory process but also the functioning of the innate immune system itself.

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“…The MEFV mutations directly affect pyrin protein activity by disrupting the balance between different inflammation factors, which may cause pain and fever in the chest, abdomen, and joints [6]. To date, mutations reported from different populations for FMF include Jewish, Armenian, Turkish, and Arab people with different frequencies [7]. From reported changes in the MEFV, five missense mutations namely E148Q, M694I, M694V, M680I, and V726A count as the most common reported mutations [8,9].…”

Section: Introductionmentioning

confidence: 99%

Molecular and in Silico Analysis of MEFV Variants in Familial Mediterranean Fever Patients in Southwest Iran

Noorbakhsh,

Zamani,

Sedaghat

et al. 2023

OBM Genet

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Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in MEFV. These mutations can affect the dysregulation of inflammatory processes in the human body and lead to fever and pain in the chest and abdomen. Many known missense mutations in MEFV are linked to FMF disease. Mutations in MEFV in most cases are located on the short arm of chromosome 16 and can impair the function of the pyrin protein. In this research, we aimed to examine the entire exons of MEFV for 13 cases (8 females and 5 males) with FMF diagnosis from Southwest Iran. Hence, we amplified and sequenced the exons of MEFV and then, in-silico analysis of detected changes was applied to estimate the probability of pathogenicity for the identified variants. Finally, we found five single nucleotide substitutions, including M694V (c.2080A>G), R202Q (c.605G>A), E447G (c.1430A>G), E148Q (c.442G>C), and V726A (c.2177T>C), in the under-represented patients. The most frequent mutations in our study were R202Q (38.46%) within exon 2 and M694V (30.7%) within exon 10. Other mutations accounted for a further 23% of the alleles, including E477G (7.6%), E148Q (7.6%), and V726A (7.6%). According to the in-silico analyses, including variation pathogenicity, protein structure, and allele frequency assessments, we concluded that all these variants could be considered in FMF molecular profiling in southwest Iran.

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A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients

Cited by 9 publications

References 28 publications

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

An Update on Familial Mediterranean Fever

Molecular and in Silico Analysis of <i>MEFV</i> Variants in Familial Mediterranean Fever Patients in Southwest Iran

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