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 Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene

2018 ◽  
Vol 56 (1) ◽  
pp. 42-49 ◽  
Author(s):  
Ender Coşkunpınar ◽  
Ayla Özvarnalı ◽  
Kıvanç Çefle ◽  
Ayşe Palanduz ◽  
Ahmet Gül ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Molecular Diagnosis ◽  
Mefv Gene ◽  
Frequent Mutations ◽  
Mediterranean Fever

R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever

2017 ◽  
Vol 52 (6) ◽  
pp. 994-1003 ◽  
Author(s):  
Ö. Fentoğlu ◽  
G. Dinç ◽  
Ö. Bağcı ◽  
A. Doğru ◽  
İ. İlhan ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Chronic Periodontitis ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Mediterranean Fever

MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever

2010 ◽  
Vol 14 (2) ◽  
pp. 263-268 ◽  
Author(s):  
Dalal A. El Gezery ◽  
Abla A. Abou-Zeid ◽  
Doaa I. Hashad ◽  
Hesham K. El-Sayegh
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Egyptian Patients ◽  
Mediterranean Fever

scholarly journals Mutation screening of familial Mediterranean fever in the Azeri Turkish population: Genotype-phenotype correlation and the clinical profile variability

Genetika ◽  
2014 ◽  
Vol 46 (2) ◽  
pp. 611-620
Author(s):  
Jalal Gharesouran ◽  
Maryam Rezazadeh ◽  
Morteza Ghojazadeh ◽  
Mohaddes Ardabili
Keyword(s):  
Renal Failure ◽  
Familial Mediterranean Fever ◽  
Clinical Symptoms ◽  
Phenotypic Variability ◽  
Mutation Screening ◽  
Turkish Population ◽  
Coding Region ◽  
Frequent Mutations ◽  
Mediterranean Fever ◽  
Frequency Changes

Familial Mediterranean fever is known as a most frequent hereditary autoin-Xammatory among the autoinflammatory syndromes characterized by fever, arthritis and serosal inflammation. Clinically, the foremost severe symptom of the disease is amyloidosis, which may cause to renal failure. MEFV renal failure consists of ten exons and conservative mutations clustered in exon ten (M694V, V726A, M680I, M694I) and exon two (E148Q) are considered more common mutations within this coding region and that they are detected with a distinct frequency changes in line with ethnicity. The aim of this study was to research the spectrum of mutations in Azeri Turkish population. We evaluated the molecular test results of 82 patients and their parents from eighty families identified as having FMF clinical symptoms referred to Molecular Genetics Laboratory of the Department of Medical Genetics. Patients were referred by their physicians for MEFV mutation detection. The most frequent mutations were M694V respectively followed by M680I (G/C), V726A, M694I and E148Q mutations. A phenotypic variability was also ascertained between patients with different mutations and it must be considered within the daily management of FMF patients.

scholarly journals Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Amal R. Mansour ◽  
Ayman El-Shayeb ◽  
Nihal El Habachi ◽  
Mohamad A. Khodair ◽  
Doaa Elwazzan ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Signs And Symptoms ◽  
High Serum ◽  
Compound Heterozygous ◽  
Amyloid A ◽  
Egyptian Patients ◽  
Sequencing Studies ◽  
Mediterranean Fever

Background. Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive disease which is mainly seen in the Turks, Armenians, Arabs, and Jews. It is characterized by recurrent episodes of fever, polyserositis, and rash. MEFV gene, encoding pyrin protein, is located on the short arm of chromosome 16. FMF is associated with a broad mutational spectrum in this gene. Certain mutations are more common in particular ethnic groups. To date, different mutations of MEFV were observed in studies carried out in different regions worldwide. However, most of these studies did not extensively investigate the Egyptian population, in spite of the high prevalence of FMF in this geographical region. Aim. To identify the frequency of MEFV gene mutations among the patients who presented with FMF like symptoms and, to characterize the different genetic mutations and their association with increased Amyloid A among Egyptian patients. Methods. FMF Strip Assay (Vienna Lab Diagnostics, Vienna, Austria) was used. This test is based on reverse hybridization of biotinylated PCR products on immobilized oligonucleotides for mutations and controls in a parallel array of allele-specific oligonucleotides. Results. Among the 1387 patients presenting with signs and symptoms suggestive of FMF, 793 (57.2%) were of undefined mutations, whereas 594 had MEFV gene mutations. 363 patients (26.2%) were heterozygous mutants, 175 patients (12.6%) were compound heterozygous mutants, and 56 patients (4%) were homozygous mutants. The most commonly encountered gene mutations in heterozygous and homozygous groups were E148Q (38.6%), M694I (18.1%), and V726A (15.8%). The most commonly encountered gene mutations in the compound heterozygous groups were E148Q+M694I observed in 20.6% of the patients, followed by M694I+V726A and M6801+V726A found in 18.9% and 11.4 %, respectively. The most commonly encountered gene mutation associated with abdominal pain, fever, and high serum Amyloid A was E148Q allele (37.5%). Conclusions. Unlike all previous publications, E148Q allele was found to be the most frequent in the studied patients. Moreover, this allele was associated with increased Amyloid A. 793 patients were free of the 12 studied Mediterranean mutations, which implies the necessity to perform future sequencing studies to reveal other mutations.

MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: Experience of a major tertiary care center

2007 ◽  
Vol 35 (3) ◽  
pp. 447-451 ◽  
Author(s):  
Amira S. Sabbagh ◽  
Mona Ghasham ◽  
Rabab Abdel Khalek ◽  
Layal Greije ◽  
Dina M. R. Shammaa ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Care Center ◽  
Mefv Gene ◽  
Tertiary Care ◽  
Gene Mutations ◽  
Tertiary Care Center ◽  
Mediterranean Fever ◽  
Work Up

Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis

2017 ◽  
Vol 36 (11) ◽  
pp. 2589-2594 ◽  
Author(s):  
Can Huzmeli ◽  
Ferhan Candan ◽  
Gokhan Bagci ◽  
Demet Alaygut ◽  
Ali Yilmaz ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Primary Glomerulonephritis ◽  
Mediterranean Fever
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