scholarly journals Recurrent Synovitis of Hip and MEFV Gene Related Arthritis in Children

2020 ◽  
Author(s):  
Farhad Salehzadeh ◽  
Mehrdad Mirzarahimi
Keyword(s):  
Rheumatic Disease ◽  
Peripheral Blood ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Mediterranean Area ◽  
Hip Joints ◽  
Mefv Mutations ◽  
Pathogenic Variants ◽  
Pathologic Findings

Abstract Background : Recurrent and relapsing arthritis has been proposed to describe a group of arthritis with recurring and periodic nature, in which the joints are intermittently involved. This study reports three non-FMF patients with heterozygous MEFV gene mutations and an extraordinary arthritis as a recurrent synovitis of hip (RSH) Methods : During 16-years from 2003 to 2019 at pediatric rheumatologic clinic among 195 recorded files with chronic oligoarthritis, 3 patients with diagnosis of recurrent synovitis of hip (RSH) were reviewed thoroughly. Peripheral blood was collected from patients and the samples were screened for the 12 common MEFV gene pathogenic variants. Results: This study included three patients, two female and one male with relapsing idiopathic arthritis that has been located on hip joints as a sole manifestation and pathologic findings of MEFV mutations as follow: A744S, V726A, and R761H. Conclusion : On the basis of possible role of MEFV gene in different rheumatic disease, MEFV gene related arthritis may be considered as a background of RSH particularly in Mediterranean area.

scholarly journals Recurrent Synovitis of Hip and MEFV Gene Related Arthritis in Children

2019 ◽  
Author(s):  
Farhad Salehzadeh ◽  
Mehrdad Mirzarahimi
Keyword(s):  
Autosomal Recessive ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Inflammatory Disorder ◽  
Hip Joints ◽  
Mefv Mutations ◽  
Pathogenic Variants ◽  
Pathologic Findings ◽  
Mediterranean Fever

Abstract Background: Familial Mediterranean fever (FMF) is an autosomal recessive inherited auto inflammatory disorder. Arthritis is the presenting finding of FMF in some patients, and sometimes it remains as the major manifestation of the disorder. This study reports three non-FMF patients with heterozygous MEFV gene mutations and an extraordinary arthritis as a recurrent synovitis of hip (RSH) Methods: During 16-years from 2003 to 2019 at pediatric rheumatologic clinic among 195 recorded files, 3 patients with diagnosis of recurrent synovitis of hip (RSH) were reviewed thoroughly. Peripheral blood was collected from patients and the samples were screened for the 12 common MEFV gene pathogenic variants. Results: This study included three patients, two female and one male with relapsing arthritis that has been located on hip joints as a sole manifestation and pathologic findings of MEFV mutations as follow: A744S, V726A, and R761H. Conclusion: On the basis of possible role of MEFV gene in different rheumatic disease RSH could be considered as a MEFV gene related arthritis. Key words: FMF, MEFV gene, Recurrent synovitis of hip in children

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. 

The role of MEFV gene mutations in Multiple Sclerosis susceptibility

2010 ◽  
Vol 298 (1-2) ◽  
pp. 163
Author(s):  
Hamid Zahednasab ◽  
Mohammad Saadatnia ◽  
M. Reza Jabalameli ◽  
Seyed Amir Bahreini
Keyword(s):  
Multiple Sclerosis ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Multiple Sclerosis Susceptibility

scholarly journals The role of MEFV gene in COVID 19 disease, as a protective factor

2020 ◽  
Author(s):  
Farhad Salehzadeh ◽  
Ehsan Shahbazifar ◽  
Farhad Pourfarzi ◽  
Rassol Molatefi ◽  
Behzad Davarnia ◽  
...  
Keyword(s):  
Protective Factor ◽  
Eastern Mediterranean ◽  
Mefv Gene ◽  
Positive Family History ◽  
Eastern Mediterranean Region ◽  
Gene Mutations ◽  
Protective Role ◽  
Carrier Rate ◽  
Novel Coronavirus

Abstract Background In early 2020, an outbreak of pneumonia caused by a novel coronavirus became pandemic. This study evaluates the potential immune-genetically role of MEFV gene mutations in COVID 19 patients. Methods 50 COVID 19 PCR positive patients who were hospitalized in COVID 19 referral centers between 1st of March to 30th of April in 2020 were evaluated for MEFV gene mutations using ARMS PCR and Sanger sequencing. Results MEFV gene mutations were found in 6 (12%) of the patients. No homozygote or compound heterozygote forms were detected. The total mutant allele frequency was 6%. The carrier rate was 12% which is significantly lower than previously studied rate of 25%. The most common MEFV variant was E148Q in 3 (6%). There was no mutant variant of MEFV gene among the expired patients. None of the MEFV gene mutant patients had FMF symptoms or positive family history of FMF disease. Conclusion Considering the high carrier rate of MEFV gene mutations in the eastern Mediterranean region and a significantly lower prevalence of these mutations in COVID 19 patients, it seems that MEFV gene mutations may have a protective role in incidence of the disease.

scholarly journals Idiopathic Uveitis and Familial Mediterranean Fever: Is There Any Relationship?

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Farhad Salehzadeh ◽  
Ozra Yasrebi ◽  
Mahsa Hosseini Khotbesara ◽  
Maryam Hosseini Khotbesara
Keyword(s):  
Familial Mediterranean Fever ◽  
Inflammatory Process ◽  
Mefv Gene ◽  
Gene Mutations ◽  
The Other ◽  
Blurred Vision ◽  
Mefv Mutations ◽  
Auto Inflammatory Disease ◽  
Mediterranean Fever ◽  
Positive Results

Introduction. Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by attacks of fever and polyserositis. FMF is often associated with other autoimmune diseases such as rheumatoid arthritis, polyarteritis nodosa (PAN), and Behcet. Uveitis is an inflammatory process caused by underlying infectious and inflammatory disorders. This study investigates the probable relationship between idiopathic uveitis and FMF.Methods. Patients with idiopathic uveitis were analyzed for the 12 most common MEFV mutations (P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) by a reverse hybridization assay (FMF StripAssay,Vienna lab,Vienna, Austria).Results. 12 patients with idiopathic uveitis were enrolled in this study. 10 of them were female. The youngest patient was a 7-year-old child and the oldest was 57. The most common complaints of patients were blurred vision and then eye redness. One patient was heterozygous for R761H. Genetic analysis of the 12 most common MEFV mutations in the patients with idiopathic uveitis didnot have any positive results.Conclusion. According to the analysis of the 12 most common MEFV gene mutations, FMF is not an underlying cause of idiopathic uveitis. On the other hand, uveitis merely could not be the first presentation of FMF.

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome

Cardiology ◽  
2017 ◽  
Vol 137 (4) ◽  
pp. 256-260 ◽  
Author(s):  
Francesca Gualandi ◽  
Fatima Zaraket ◽  
Michele Malagù ◽  
Giulia Parmeggiani ◽  
Cecilia Trabanelli ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Genetic Diagnosis ◽  
Gene Mutations ◽  
Mutation Load ◽  
Pathogenic Variants ◽  
Digenic Inheritance ◽  
Double Heterozygosity ◽  
Death Cases ◽  
Generation Sequencing

Brugada syndrome is a primary arrhythmic syndrome that accounts for 20% of all sudden cardiac death cases in individuals with a structurally normal heart. Pathogenic variants associated with Brugada syndrome have been identified in over 19 genes, with SCN5A as a pivotal gene accounting for nearly 30% of cases. In contrast to other arrhythmogenic channelopathies (such as long QT syndrome), digenic inheritance has never been reported in Brugada syndrome. Exploring 66 cardiac genes using a new custom next-generation sequencing panel, we identified a double heterozygosity for pathogenic mutations in SCN5A and TRPM4 in a Brugada syndrome patient. The parents were heterozygous for each variation. This novel finding highlights the role of mutation load in Brugada syndrome and strongly suggests the adoption of a gene panel to obtain an accurate genetic diagnosis, which is mandatory for risk stratification, prevention, and therapy.

Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population

Biologia ◽  
2009 ◽  
Vol 64 (2) ◽  
Author(s):  
Binnur Koksal ◽  
Naim Nur ◽  
Musa Sari ◽  
Ferhan Candan ◽  
Mursit Acemoglu ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Severe Disease ◽  
Mefv Gene ◽  
Point Mutations ◽  
Gene Mutations ◽  
Homozygous Mutation ◽  
Frequent Mutation ◽  
Mefv Mutations ◽  
Wide Range ◽  
Mediterranean Fever

AbstractFamilial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis. The aim of the current study is to determine the frequency of the mutations in 365 suspected FMF patients and to reveal whether there is a correlation between genotype and phenotype of these patients. All patients were clinically examined according to Tell-Hashomer FMF criteria and were screened genetically in terms of common 12 Mediterranean fever gene (MEFV) mutations. Various point mutations were detected in 270 (74%) patients. The most frequent mutation was M694V (26.85% of the alleles) and was followed by E148Q (15.55%), M680I (G/C) (9.62%) and V726A (7.96%). Patients who bear M694V homozygous mutation had most severe disease phenotype and high risk for amyloidosis (P = 0.04). Our results indicate that Sivas population has a wide range of heterozygous mutated carriers of MEFV gene and there is a high frequency of E148Q allele when compared to the other Mediterranean groups.

scholarly journals A HYPOTHETICAL ROLE FOR PLAGUE IN THE SELECTION OF MEFV MUTATION CARRIERS IN THE MEDITERRANEAN AREA

2020 ◽  
Vol 1 (1) ◽  
pp. 55-59
Author(s):  
Ezgi Deniz Batu
Keyword(s):  
Host Defense ◽  
Rho Gtpase ◽  
Mefv Gene ◽  
Mediterranean Area ◽  
Selective Advantage ◽  
Mefv Mutation ◽  
Mefv Mutations ◽  
Yersinia Species ◽  
Mutation Carriers ◽  
The Mediterranean

Familial Mediterranean fever (FMF) is the most common autoinflammatory disease associated with mutations in the MEFV gene encoding Pyrin. MEFV mutations are frequent in the Mediterranean region. Increased resistance to an infection endemic to this area could have caused a selective advantage for individuals with MEFV mutations. Recent studies have shown that Pyrin is a part of host defense against microorganisms and it gets activated after sensing Rho GTPase inactivation by bacteria such as Clostridium difficile or Yersinia pestis. However, Yersinia species have another effector molecule, YopM which inhibits Pyrin in addition to RhoA modifiers YopE and YopT. Continuously overactive Pyrin in individuals with MEFV mutations could be a good host defense against Yersinia infections. Y. pestis causes plague, which led to a devastating pandemic in the Mediterranean basin. Thus, plague could be the infection which caused a selective biologic advantage for MEFV mutation carriers in this area.

scholarly journals Idiopathic CRMO and MEFV Gene Variant Alleles: Is There Any Relationship?

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Farhad Salehzadeh ◽  
Hassan Anari ◽  
Sepehr Sarkhanloo
Keyword(s):  
Age Of Onset ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Bone Lesions ◽  
Gene Variant ◽  
Intermittent Fever ◽  
Pathogenic Variants ◽  
Long Duration ◽  
Variant Alleles

Background and Objective. CRMO is an inflammatory disease of bone that occurs more often in children. The clinical manifestations are intermittent fever, pain, and bone lesions, especially in long bones. Although there is an idiopathic type of disease, it is usually associated with some autoimmune disorders. This study evaluates MEFV gene mutations as background pathology of idiopathic CRMO. Methods. Blood samples of patients, who diagnosed as childhood idiopathic CRMO by imaging and pathologic study from June 2011 until September 2018, have been screened for the 12 common pathogenic variants of MEFV gene mutations. Result. Nine patients enrolled in this study, and eight of them were male. The most common involvement locations were tibia and femur, and the least ones were zygoma, calcaneus, and radius. The mean duration of the involvement was 1.3 years. Six patients had only 1 involved location, 2 patients showed two sites of involvement, and one patient had three affected areas. There were two positive MEFV gene mutations (22%), as E148Q/wt and K695R/wt both in the heterozygote form. There was no meaningful relationship between MEFV gene mutations and the age of onset, gender, and location of involvement. Patients with positive mutation had more involved sites and long duration of involvement significantly. Conclusion. There is no significant immunopathogenic relationship between the common MEFV gene variant alleles and CRMO disease.

Sign in / Sign up

Export Citation Format

Share Document