MEFV gene mutations in Turkish children with juvenile idiopathic arthritis

2013 ◽  
Vol 172 (8) ◽  
pp. 1061-1067 ◽  
Author(s):  
Elif Comak ◽  
Cagla Serpil Dogan ◽  
Sema Akman ◽  
Mustafa Koyun ◽  
Arife Uslu Gokceoglu ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Turkish Children

Prevalence of MEFV gene mutations and their clinical correlations in Turkish children with Henoch-Schönlein purpura

2011 ◽  
Vol 100 (5) ◽  
pp. 745-749 ◽  
Author(s):  
Cengiz Bayram ◽  
Gülay Demircin ◽  
Özlem Erdoğan ◽  
Mehmet Bülbül ◽  
Aysun Çaltık ◽  
...  
Keyword(s):  
Mefv Gene ◽  
Gene Mutations ◽  
Henoch Schonlein Purpura ◽  
Turkish Children ◽  
Clinical Correlations ◽  
Schonlein Purpura ◽  
Henoch Schönlein Purpura

scholarly journals The Frequency of Familial Mediterranean Fever Gene Mutations and the Correlations between Phenotype and Genotype in Turkish Children

2020 ◽  
pp. 20-26
Author(s):  
Hakan Erdogan ◽  
Ayse Cavidan Sonkur ◽  
Orhan Görükmez ◽  
Ayse Erdogan ◽  
Dilek Damla Saymazlar ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mutation Screening ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Retrospective Case ◽  
Turkish Children ◽  
Pathogenic Variants ◽  
Frequent Mutations ◽  
Training And Research ◽  
Mediterranean Fever

Aim: Familial Mediterranian Fever is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 158 children (78 male, 80 female) diagnosed with Familial Mediterranean Fever (FMF) and to compare the phenotype-genotype correlation. Methods: In our retrospective case-control study, 158 FMF patients (78 males, 80 females) who were diagnosed with MEFV gene mutation in Bursa Yuksek Ihtisas Training and Research Hospital, Department of Pediatrics between January 2018 and June 2019 were included in the study.  Mutation screening of the MEFV gene was performed for 12 mutations and the 8 most common mutations were taken into the study. Results: Abdominal pain (77.8%), fever (74%) and arthralgia (46.2%) were the most prevalent clinical features in our patients. The most frequent mutations were M694V, E148Q, V726A, M680I and P369S. In cases with M694 mutation, it was noted that the incidence of arthritis was 2.5 times, appendectomy frequency 3.1 times higher, and early diagnosis probability 3.2 times higher. The frequency of chest pain was 2.9 times higher in the M680I mutation, and the frequency of arthralgia was 2.2 times higher in the P369S mutation. Conclusion: Patient’s mutations in FMF patients are important for clinical expectations, and some mutations such as P369S are not as innocent as expected. However, reevaluation of phenotypes of mutations that are rare with more patients will be significant. 

scholarly journals A Rare Case of a Severe Course of Systemic Onset of Juvenile Idiopathic Arthritis Associated with MEFV Gene Mutations in a 12-year-old Girl

2021 ◽  
Vol 2 ◽  
pp. 24-29
Author(s):  
Svitlana Ilchenko ◽  
Anastasiia Fialkovska ◽  
Svitlana Ivanus ◽  
Tetiana Baralei
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Rare Case ◽  
Immunosuppressive Agents ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Disease Course ◽  
Systemic Jia ◽  
Disease Prognosis ◽  
Mediterranean Fever ◽  
Systemic Onset

Juvenile idiopathic arthritis (JIA) is a common rheumatic disease in children and adolescents. MEFV (Mediterranean fever, FMF) gene mutations are observed in systemic-onset JIA, that in addition to increasing the risk of JIA development, worsen the disease prognosis. We reported a rare case of a severe systemic-onset JIA associated with MEFV gene mutations in a 12-year-old girl. The patient had an aggressive disease course and resistance to conventional immunosuppressive agents. This case confirms the difficulties of diagnostic and treatment of systemic JIA (sJIA) associated with FMF. Currently, there are no established criteria for the definition or differential diagnosis of arthritis associated with FMF. The severe prognosis of JIA associated with FMF should motivate clinicians to initiate aggressive therapy early.

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

Comprehensive Analysis of a Large-Scale Screen for MEFV Gene Mutations: Do They Truly Provide a “Heterozygote Advantage” in Turkey?

2011 ◽  
Vol 15 (7-8) ◽  
pp. 475-482 ◽  
Author(s):  
Afig Berdeli ◽  
Sevgi Mir ◽  
Sinem Nalbantoglu ◽  
Necil Kutukculer ◽  
Betül Sozeri ◽  
...  
Keyword(s):  
Large Scale ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Comprehensive Analysis ◽  
Heterozygote Advantage

scholarly journals Common Mediterranean Fever (MEFV) Gene Mutations Associated with Ankylosing Spondylitis in Turkish Population

2012 ◽  
Vol 33 (3) ◽  
pp. 113-118 ◽  
Author(s):  
Serbulent Yigit ◽  
Ahmet Inanir ◽  
Nevin Karakus ◽  
Esra Kesici ◽  
Nihan Bozkurt
Keyword(s):  
Ankylosing Spondylitis ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Turkish Population ◽  
M694v Mutation ◽  
Significant Difference ◽  
Mediterranean Fever ◽  
Genomic Dnas ◽  
Polymerase Chain ◽  
Turkish Patients

Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease. Mediterranean fever (MEFV) gene, which has already been identified as being responsible for familial Mediterranean fever (FMF), is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance ofMEFVgene mutations (M694V, M680I, V726A, E148Q and P369S) in a cohort of Turkish patients with AS. Genomic DNAs of 103 AS patients and 120 controls were isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. There was a statistically significant difference of theMEFVgene mutation carrier rates between AS patients and healthy controls (p= 0.004, OR: 2.5, 95% CI: 1.32–4.76). This association was also observed in allele frequencies (p= 0.005, OR: 2.3, 95% CI: 1.27–4.2). A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% ,p= 0.060). There were no significant differences between MEFV mutation carriers and non-carriers with respect to the clinical and demographic characteristics. The results of this study suggest thatMEFVgene mutations are positively associated with a predisposition to develop AS.

scholarly journals Contribution of Genetic and Environmental Risk Factors in a Juvenile Idiopathic Arthritis Large Family With SERPINA1 Gene Mutations

2021 ◽  
Author(s):  
Cyprian Popescu
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Gene Mutations ◽  
Large Family ◽  
Carrier Status ◽  
Multiplex Family ◽  
Serpina1 Gene ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Genetic And Environmental Factors ◽  
Underlying Mechanisms

Abstract Objectives Although the underlying mechanisms and mediators of arthritis in juvenile idiopathic arthritis (JIA) are not well understood, accumulated evidence supports the mixt role of genetic and environmental factors. Few reports of multiplex families with JIA were published until now. The aim of this study was to identify new genetic or environmental associations concerning the patients of a kindred with juvenile idiopathic arthritis and psoriatic features (JIAPs). Methods Here, we characterized an extended multiplex family of 5 patients with juvenile idiopathic arthritis and psoriatic features (PsA) at the clinical and genetic level, using whole exome sequencing. Results We did not confirm in our family the linkage with the genetic factors already described that might be associated with increase susceptibility to JIA. We found a carrier status of siblings who inherited a pathogenic allele of the SERPINA1 gene from their mother who herself has two heterozygous pathogenic variants in the SERPINA1 gene. Conclusions Our data showed that JIA results from pleiotropic effects of environmental background with an only minor monogenic contribution. Even that a monogenetic factor could not be proved, some genetic factor as SERPINA1 mutations which can sensitize for psoriatic arthritis development seems to be involved. Further investigation must be done to prove whether SERPINA1 mutations may have a potential JIA causality.

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