The results of sequence analyses in Familial Mediterranean Fever suspected cases and the investigation of incidence of MEFV gene mutation region in positive cases

2011 ◽  
Vol 22 ◽  
pp. S105-S106
Author(s):  
Keramettin Yanik ◽  
Ali Okuyucu ◽  
Mustafa Capraz ◽  
Kasim Demir ◽  
Saban Abdullah Kaya ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Gene Mutation ◽  
Mefv Gene ◽  
Sequence Analyses ◽  
Mediterranean Fever ◽  
Mutation Region ◽  
Mefv Gene Mutation

scholarly journals Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

2021 ◽  
Vol 48 (3) ◽  
pp. 2025-2033
Author(s):  
Abdullah Arpacı ◽  
Serdar Doğan ◽  
Hazal Fatma Erdoğan ◽  
Çiğdem El ◽  
Sibel Elmacıoğlu Cura
Keyword(s):  
Familial Mediterranean Fever ◽  
Ethnic Groups ◽  
Gene Mutation ◽  
Mefv Gene ◽  
Gene Mutations ◽  
University Hospital ◽  
New Mutation ◽  
Exon 2 ◽  
Mediterranean Fever ◽  
Mefv Gene Mutation

AbstractFamilial Mediterranean Fever (FMF), which is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian, Arabic and Jewish. The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. In this study, we aimed to present a new mutation that has not been previously defined from the mutations in the MEFV gene which is responsible for the genetic pathology of familial Mediterranean fever and to evaluate the frequency of distribution of the MEFV gene mutation among different ethnic groups living in our region. In present retrospective study, a total of 2639 clinically suspected FMF patients who were referred to Hatay Mustafa Kemal University Hospital between 2010 and 2017 were recorded. MEFV gene mutations were observed using DNA sequence analysis. MEFV mutations were found in 2079 of the 2639 patients (78.7%) Among these patients 184 (6.97%) were homozygous, while 1365 (51.72%) were heterozygous. The most frequently observed mutation was R202Q (1319, 19.55%) followed by E148Q (n = 476, 7.05%), M694V (n = 439, 6.51%), V726A (n = 146, 2.16%) and M680I (n = 135, 2%). In a case clinically diagnosed as FMF, a new mutation called S145G (p. Ser145Gly, c.433A > G) was identified in exon 2 of the MEFV gene. Besides, addition of a new pathogenic MEFV variant to the literature, the relationship between the FMF clinic and homozygous form of R202Q, which was previously considered as a polymorphism, was highlighted.

scholarly journals Eosinophilic Gastroenteritis and Familial Mediterranean Fever in a Child With MEFV Gene Mutation

2019 ◽  
Author(s):  
Sanaz Mehrabani ◽  
Mohammad Pornasrollah ◽  
Leila Moslemi
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Gene Mutation ◽  
Histopathological Examination ◽  
Mefv Gene ◽  
Eosinophilic Gastroenteritis ◽  
Inflammatory Disorder ◽  
Medical Sciences ◽  
Exact Etiology ◽  
Mediterranean Fever

Eosinophilic gastroenteritis (EG) is a rare inflammatory disorder affecting both children and adults. The exact etiology of the disease is not clear. A child presented with episodic generalized abdominal pain since a year ago without fever at first. After endoscopic and colonoscopic examinations, histopathological examination showed an increased number of eosinophils and diagnosis of EG was made. After elimination of dairy products from his regimen, abdominal pain attacks was reduced, but he got a fever. Familial Mediterranean Fever (FMF) diagnosis was made by genetic evaluation which showed MEV gene mutation. Symptoms were resolved with the treatment of colchicine which confirmed FMF diagnosis. © 2019 Tehran University of Medical Sciences. All rights reserved. Acta Med Iran 2019;57(5):328-331.

scholarly journals Cold Exposure Related Fever with an Mediterranean Fever (MEFV) Gene Mutation

2017 ◽  
Vol 56 (16) ◽  
pp. 2233-2236 ◽  
Author(s):  
Shima Kumei ◽  
Tsukasa Nozu ◽  
Masumi Ohira ◽  
Saori Miyagishi ◽  
Toshikatsu Okumura
Keyword(s):  
Gene Mutation ◽  
Cold Exposure ◽  
Mefv Gene ◽  
Mediterranean Fever ◽  
Mefv Gene Mutation

scholarly journals Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
S. Sahin ◽  
D. Gulec ◽  
S. Günay ◽  
C. Cekic
Keyword(s):  
Inflammatory Bowel Disease ◽  
Gene Mutation ◽  
Bowel Disease ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Clinical Effects ◽  
Mediterranean Fever ◽  
Inflammatory Bowel ◽  
The Relationship ◽  
Mefv Gene Mutation

Background. The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar. Objective. Here, the frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD were evaluated. Methods. DNA sequence analysis detected the variants on the MEFV gene in patients with IBD. The relationship between mutations and the need for steroids, immunomodulators, biologics, and surgery was assessed. Results. We evaluated 100 patients with IBD (55 with ulcerative colitis (UC) and 45 with Crohn’s disease (CD)) and 60 healthy individuals as controls. The frequency of MEFV gene mutation was 26.7% ( n = 12 ) and 14.5% ( n = 8 ) for UC and CD, respectively. No relationship was found between MEFV gene mutation and the need for steroids, immunomodulators, and biologics ( p = 0.446 ; p = 0.708 ; p > 0.999 , resp.); however, in UC, the need for surgery in those with mutation ( p = 0.018 ) and E148Q mutation alone was significant ( p = 0.037 ). Conclusion. The rate of MEFV gene mutations was high in patients with UC who required surgery. These patients have frequent and severe attacks, indicating that the mutations are related to disease severity. MEFV mutation as a modifier factor of IBD should be considered.

Mediterranean fever (MEFV) gene mutation frequency is not increased in adults with rheumatic heart disease

2010 ◽  
Vol 30 (4) ◽  
pp. 491-495 ◽  
Author(s):  
Ismail Simsek ◽  
Cem Koz ◽  
Nurcan Basar ◽  
Ismail Sari ◽  
Hakan Erdem ◽  
...  
Keyword(s):  
Heart Disease ◽  
Rheumatic Heart Disease ◽  
Gene Mutation ◽  
Mutation Frequency ◽  
Mefv Gene ◽  
Mediterranean Fever ◽  
Mefv Gene Mutation ◽  
Rheumatic Heart

E148Q of the MEFV Gene Causes Amyloidosis in Familial Mediterranean Fever Patients

PEDIATRICS ◽  
2001 ◽  
Vol 108 (1) ◽  
pp. 215-215 ◽  
Author(s):  
N. Akar ◽  
E. Akar ◽  
F. Yalcinkaya; ◽  
G. J. Halpern ◽  
A. Mimouni ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Mediterranean Fever

scholarly journals Toll-like receptor-4 gene variations in Egyptian children with familial Mediterranean fever

2021 ◽  
Vol 48 (1) ◽  
Author(s):  
Yomna Farag ◽  
Samia Salah ◽  
Hanan Tawfik ◽  
Mai Hamed ◽  
Huda Marzouk
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Gene Mutation ◽  
Rflp Analysis ◽  
Gene Variants ◽  
Gene Variant ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Egyptian Children ◽  
Mediterranean Fever

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive disorder affecting people in the region of the Mediterranean Sea. It is usually associated with mutation in Mediterranean fever (MEFV) gene that encodes the pyrin protein, which affects the innate inflammatory response. Toll-like receptors (TLR) are a family of pattern recognition receptors that recognize pathogenic microbes and activate antimicrobial defense mechanisms. Toll-like receptor 4 (TLR-4) is concerned with recognition of gram-negative organisms. There is growing clinical evidence suggesting a role for expression of TLRs in the immune pathogenesis of FMF. Thus, the aim of the current study was to evaluate the presence of TLR-4 (p.Asp299Gly) and TLR-4 (p.Thr399Ile) gene variants in association with Egyptian children having FMF, furthermore, its effect on disease course and severity. Results Seventy Egyptian children diagnosed as having FMF, together with 50 age and gender-matched controls were enrolled in the study. The TLR-4 (p.Asp299Gly) and (Thr399Ile) gene variants were determined by PCR-RFLP analysis for all studied patients and controls. TLR-4 p.Asp299Gly gene variant was detected in 1 (1.4%) of the patients and p.Thr399Ile gene variant was detected in 2 (2%). None of the controls had any of the two tested gene variants. All found variations were heterozygous. We could not find a statistically significant association with disease severity in cases with or without TLR-4 gene variants (P = 0.568). Patients with M694V gene mutation showed a higher disease severity (P = 0.035). Conclusion TLR-4 (p.Asp299Gly) and (p.Thr399Ile) gene variants were not found to have a link with the occurrence, the clinical picture of FMF, its severity, and response to colchicine treatment in Egyptian children. M694V gene mutation seems to be associated with higher disease severity. Further larger studies are needed to verify these results.

PAPASH syndrome with MEFV gene mutation

2021 ◽  
Vol 156 (6) ◽  
pp. 313
Author(s):  
Juan Monte Serrano ◽  
Sonia de la Fuente Meira ◽  
Joana Cruañes Monferrer ◽  
Miguel Fernando García-Gil
Keyword(s):  
Gene Mutation ◽  
Mefv Gene ◽  
Mefv Gene Mutation

AB0980 CASE-REVIEW ON FAMILIAL MEDITERRANEAN FEVER IN A SPECIALIZED CENTRE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1784.1-1784
Author(s):  
R. Dos Santos Sobrín ◽  
M. Martí Masanet ◽  
B. Lopez-Montesinos ◽  
L. Lacruz Pérez ◽  
I. Calvo
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Familial Mediterranean Fever ◽  
Periodic Fever ◽  
Severe Disease ◽  
Strong Association ◽  
Mefv Gene ◽  
Systemic Juvenile Idiopathic Arthritis ◽  
Case Series ◽  
Case Review ◽  
Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder caused mostly by mutations in MEFV gene. Its inheritance is autosomal recessive and is the most frequent periodic fever syndrome. First-line treatment is based in colchicine use, so biologics (anti-IL-1) are reserved for refractory cases1, 2.Objectives:To account for clinic and treatment features of patients with FMF in a specialized center as opposed to non-referent centers.Methods:This study was developed in the Pediatric Rheumatology Service in Hospital Universitario y Politécnico La Fe de Valencia. Demographic, clinic and treatment data were collected from patients diagnosed of FMF since January 2004 to September 2019.Results:106 patients met last FMF criteria3. 55% had a pathogenic mutation in genetic analysis. 52% were female. Before 10 years old, 71% of patients had the diagnosis (51% before 4 years old). Arthralgia/myalgia (73%), periodic fever (62%) and abdominal pain (54%) were the most common symptoms. Systemic Juvenile Idiopathic Arthritis (JIA, 6), other forms of JIA (9) and vasculitis (10) were the most prevalent comorbidities. When talking about treatment, 76,4% received Colchicine (60,5% with good response), 22,6% needed a classical disease modifying antirheumatic drug (mostly Methotrexate) and 22 patients got biologic treatment (73% anti-IL-1).Conclusion:When analyzing this case-review, JIA has a strong association with our patients, so it could explain severe disease activity and more articular involvement. This could be an illustration to the higher use of Methotrexate. Also, the most relevant symptom was arthralgia while fever is the most frequent in literature. Likewise, age of diagnosis has been earlier than other case-series (this would be more frequent in other autoinflammatory syndromes, as literature relates)1, 2, 4.References:[1]Ozdogan H, Ugurlu S. Familial Mediterranean Fever. Presse Med. (2019).[2]Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 2016;75:644-651.[3]Sag E, Demirel D, Demir S, et al. Performance of the new “Eurofever/PRINTO classification criteria” in FMF patients. Semin Arthritis Rheum. 2019;19:30369-5.[4]Rozenbaum M, Rosner I. Severe outcome of juvenile idiopathic arthritis (JIA) associated with familial Mediterranean fever (FMF). Clin Exp Rheumatol. 2004;22:S75-8.Disclosure of Interests:Raquel Dos Santos Sobrín: None declared, Miguel Martí Masanet: None declared, B Lopez-Montesinos: None declared, Lucía Lacruz Pérez: None declared, Inmaculada Calvo Grant/research support from: Bristol-Myers Squibb, Clementia, GlaxoSmithKline, Hoffman-La Roche, Merck Sharpe & Dohme, Novartis, Pfizer, Sanofi, Speakers bureau: AbbVie, GlaxoSmithKline, Hoffman-La Roche, Novartis

Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis

2012 ◽  
Vol 18 (9) ◽  
pp. 1229-1238 ◽  
Author(s):  
T Kümpfel ◽  
L-A Gerdes ◽  
T Wacker ◽  
A Blaschek ◽  
J Havla ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Risk Factor ◽  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
German Population ◽  
Gene Group ◽  
Mefv Mutations ◽  
Mediterranean Fever ◽  
Group 2 ◽  
Group 1

Background: Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent febrile polyserositis. A possible association of FMF and multiple sclerosis (MS) has been suggested in cohorts from Turkey and Israel. Objective: The objective of this study was to investigate the prevalence of MEFV mutations in subjects with MS and in controls in Germany. Methods: One-hundred and fifty seven MS patients with at least one symptom or without symptoms suggestive of FMF from our outpatient clinic were investigated for mutations in exons 2, 3, and 10 of the MEFV gene (group 1). 260 independent MS patients (group 2) and 400 unrelated Caucasian controls (group 3) were screened selectively for the low-penetrance pyrin mutations E148Q and K695R Results: In group 1, 19 MS patients (12.1%) tested positive for a mutation in the MEFV gene, mainly the E148Q ( n=7) substitution. Fifteen of the 19 mutation-positive individuals reported at least one symptom suggestive of FMF. In three cases, we could identify additional family members with MS. In these pedigrees, the E148Q exchange co-segregated with MS ( p=0.026). Frequencies of the pyrin E148Q and K695R mutations were not statistically different between MS group 2 and controls but they occurred with a surprisingly high frequency in the German population. Conclusion: The MEFV gene appears to be another immunologically relevant gene locus which contributes to MS susceptibility. In particular, the pyrin E148Q mutation, which co-segregated with disease in three MS families, is a promising candidate risk factor for MS that should be further explored in larger studies.

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