International Journal of Research in Medical Sciences | April 2017 | Vol 5 | Issue 4 Page 1388 International Journal of Research in Medical Sciences Ali FT et al. Int J Res Med Sci. 2017 Apr;5(4):1388-1395 www.msjonline.org pISSN 2320-6071 | eISSN 2320-6012 Original Research Article The spectrum of MEFV gene mutations and genotype-phenotype correlation in Egyptian patients with familial Mediterranean fever Fahmy T. Ali 1 , Mostafa M. Elhady 1 *, Hanan H. Abbas 1 , AbdAllah Y. Mandouh 2 INTRODUCTION Familial Mediterranean fever (FMF) is the most widespread and best-characterized monogenic Auto- inflammatory disease, affecting mainly ethnic groups originating in or around the Mediterranean basin. This disease is characterized by irregular, self-limited febrile episodes of inflammation of serous membranes and marked elevation of acute-phase proteins. Amyloidosis, the most significant complication of FMF, is the major cause of serious long-term morbidity and mortality. 1 Its first definition as a disease was based on a case report, published under the title “benign paroxysmal peritonitis” by the allergy specialist Siegel from New York, as a compilation of Jewish patients with similar complaints. In 1992, it was reported that the abnormality associated with FMF is found on chromosome 16, and the gene responsible for the disease was identified in 1997. The disease is accompanied by a marked decrease in quality of life due to the effects of attacks and subclinical inflammation in the period between attacks. 2 ABSTRACT 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. Keywords: Allele frequency, ASO-PCR, Egyptian population, FMF, MEFV gene 1 Department of Biochemistry, Faculty of Science, Ain Shams University, Egypt 2 Department of Molecular Biology and Cytogenetic, Armed Forces Central Laboratories and Blood Bank, Egypt Received: 25 December 2016 Accepted: 02 February 2017 *Correspondence: Dr. Mostafa M. Elhady, E-mail: m_elhady@sci.asu.edu.eg Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20171233