Journal of Advances in Medical and Biomedical Research

en Genetic Evaluation of Iranian Patients With Familial Mediterranean Fever in the Southwest of Iran Medical Biology Medical Biology مقاله پژوهشی Original Research Article Background and Aims: Familial Mediterranean fever (FMF) is caused by mutations in the MEFV (Mediterranean fever) gene and is characterized by recurrent, self-limiting attacks of fever with polyserositis. This study aimed to identify MEFV gene variants in suspected FMF patients in the southwest of Iran. Methods: We obtained whole blood samples from 40 unrelated pediatric patients suspected to have FMF between 2020 and 2024. The entire coding and flanking regions of the MEFV gene were sequenced using genomic DNA. We employed in-silico tools to detect the pathogenicity predictions of the rare mutation. Further, the clinical symptoms experienced by the patients were recorded and evaluated. Results: We identified eight different mutations, including six common mutations (p.E148Q, p.M694I, p.M694V, p.A744S, p.M680I (c.2082G>A), p.V726A), one uncommon mutation (p. R202Q), and one rare mutation located in exon 3 (p.S339F). The most frequently reported mutant allele was p.E148Q (50%), followed by p.R202Q (43.75%). We reported the rare mutation p.S339F for the first time in Iranian FMF patients. Bioinformatics prediction tools confirmed the pathogenicity of this mutation, and for the first time, we used the I-mutant website for this mutation. Fever and abdominal pain were the most prevalent clinical symptoms. Conclusion: These findings can be used to develop the genetic database of MEFV gene mutations and help in detection of hotspot regions in the Iranian population, especially in the southwest. Our results can be helpful in early diagnosis and pharmacotherapy for patients suspected of having FMF. Familial Mediterranean Fever, Mutation, Clinical Features, MEFV 39 47 http://journal.zums.ac.ir/browse.php?a_code=A-10-6959-1&slc_lang=en&sid=1 Zohreh Keykhodaei zohrek3316@gmail.com 5200319475328460082813 0009-0001-4529-4474 No Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Mohammadreza Fathi fatahi-mr@ajums.ac.ir 5200319475328460082814 5200319475328460082814 No Department of Pediatrics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Ali Khodadadi akhodadadi@ajums.ac.ir 5200319475328460082815 5200319475328460082815 No Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Ahmad Shamsizadeh shamsizadeh@ajums.ac.ir 5200319475328460082816 5200319475328460082816 No Infectious and Tropical Diseases Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Ata A Ghadiri ata.ghadiri@hotmail.fr 5200319475328460082817 5200319475328460082817 No Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Pegah Ghandil pghandil@yahoo.com 5200319475328460082818 5200319475328460082818 Yes Cellular and Molecular Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran