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

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

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.

scholarly journals Multiplex Molecular Diagnosis of MEFV Mutations in Patients with Familial Mediterranean Fever by LightCycler Real-Time PCR

2005 ◽  
Vol 51 (9) ◽  
pp. 1725-1727 ◽  
Author(s):  
Elena Rossou ◽  
Anastasia Kouvatsi ◽  
Charalampos Aslanidis ◽  
Constantinos Deltas
Keyword(s):  
Familial Mediterranean Fever ◽  
Real Time ◽  
Molecular Diagnosis ◽  
Real Time Pcr ◽  
Mefv Mutations ◽  
Mediterranean Fever

scholarly journals Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever

2018 ◽  
Vol 20 (12) ◽  
pp. 1583-1588 ◽  
Author(s):  
Gernot Kriegshäuser ◽  
Dietmar Enko ◽  
Hasmik Hayrapetyan ◽  
Stepan Atoyan ◽  
Christian Oberkanins ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Genetic Heterogeneity ◽  
Late Onset ◽  
Large Cohort ◽  
Mediterranean Fever

Familial Mediterranean fever in a large Lebanese family: Multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation

2011 ◽  
Vol 54 (1) ◽  
pp. 50-54 ◽  
Author(s):  
Myrna Medlej-Hashim ◽  
Eliane Chouery ◽  
Nabiha Salem ◽  
Valérie Delague ◽  
Gérard Lefranc ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Founder Effect ◽  
Mefv Mutations ◽  
Mediterranean Fever

Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever

2006 ◽  
Vol 329 (2) ◽  
pp. 71-74 ◽  
Author(s):  
Latifa Belmahi ◽  
Abdelaziz Sefiani ◽  
Corinne Fouveau ◽  
Josué Feingold ◽  
Marc Delpech ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Mutations ◽  
Mediterranean Fever
Sign in / Sign up

Export Citation Format

Share Document