Oro‐dental features in Egyptian patients with familial mediterranean fever

2021 ◽  
Author(s):  
Maha Abouzaid ◽  
Nehal Hassib ◽  
Khaled Hamed ◽  
Mohamed Taher ◽  
Mona Sokkar ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Egyptian Patients ◽  
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 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.

scholarly journals The spectrum of MEFV gene mutations and genotype-phenotype correlation in Egyptian patients with familial Mediterranean fever

2017 ◽  
Vol 5 (4) ◽  
pp. 1388 ◽  
Author(s):  
Fahmy T. Ali ◽  
Mostafa M. Elhady ◽  
Hanan H. Abbas ◽  
AbdAllah Y. Mandouh
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Clinical Criteria ◽  
Egyptian Patients ◽  
Mediterranean Fever ◽  
The Mediterranean ◽  
Severity Of The Disease

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease mainly affecting subjects of the Mediterranean origin. It is an auto-inflammatory periodic disorder that is caused by mutations in the Mediterranean fever gene (MEFV) located on chromosome 16.Methods: The current study was designed to assess the prevalence and frequency of different MEFV gene mutations among 104 FMF clinically diagnosed Egyptian patients and to evaluate the change extent in the values of some biochemical markers (ESR, CRP, Fibrinogen-C, SAA and IL1) in different participants with different FMF severity scores.Results: According to allele status 28 patients (27%) were homozygous mutation carriers, 38 (36.5%) were with compound heterozygous mutations and 38 (36.5%) were identified as heterozygous for one of the studied mutations. Of the studied mutations, M694I, E148Q, V726A, M680I, and M694V accounted for 28.1%, 26.8%, 16.9%, and 11.3% of mutations respectively. The R761H and P369S mutations were rarely encountered mutations (1.4%). The clinical features with M694I were associated with more severe clinical course. There is a drastic elevation in the levels of estimated parameters as their levels were increased as long as the severity of the disease increased.Conclusions: The diagnosis of FMF cannot be performed on the basis of genetic testing or clinical criteria alone. So, we recommended the combination between clinical and molecular profiling for FMF diagnosis and scoring.

MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations

2009 ◽  
Vol 30 (10) ◽  
pp. 1293-1298 ◽  
Author(s):  
Ayman El-Garf ◽  
Samia Salah ◽  
Iman Iskander ◽  
Hala Salah ◽  
Sherif Naseh Amin
Keyword(s):  
Familial Mediterranean Fever ◽  
Gene Mutations ◽  
Mefv Mutations ◽  
Egyptian Patients ◽  
Mediterranean Fever

Screening of the most common MEFV mutations in a large cohort of Egyptian patients with Familial Mediterranean fever

Gene Reports ◽  
2018 ◽  
Vol 11 ◽  
pp. 23-28
Author(s):  
Waheba A. Zarouk ◽  
Hala T. El-Bassyouni ◽  
Abeer Ramadan ◽  
Alaaeldin G. Fayez ◽  
Nora N. Esmaiel ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Large Cohort ◽  
Mefv Mutations ◽  
Egyptian Patients ◽  
Mediterranean Fever
Sign in / Sign up

Export Citation Format

Share Document