Volume 33, Issue 156 (January & February 2025)                   J Adv Med Biomed Res 2025, 33(156): 39-47 | Back to browse issues page

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Keykhodaei Z, Fathi M, Khodadadi A, Shamsizadeh A, Ghadiri A A, Ghandil P. Genetic Evaluation of Iranian Patients With Familial Mediterranean Fever in the Southwest of Iran. J Adv Med Biomed Res 2025; 33 (156) :39-47
URL: http://journal.zums.ac.ir/article-1-7434-en.html
Genetic Evaluation of Iranian Patients With Familial Mediterranean Fever in the Southwest of Iran
Zohreh Keykhodaei1 , Mohammadreza Fathi2 , Ali Khodadadi3 , Ahmad Shamsizadeh4 , Ata A Ghadiri1 , Pegah Ghandil *5
1- Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran & Cellular and Molecular Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
2- Department of Pediatrics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
3- Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
4- Infectious and Tropical Diseases Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
5- Cellular and Molecular Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran & Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran , pghandil@yahoo.com
Abstract:   (531 Views)

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.

Keywords: Familial Mediterranean Fever, Mutation, Clinical Features, MEFV
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Type of Study: Original Research Article | Subject: Medical Biology
Received: 2024/11/29 | Accepted: 2025/03/1 | Published: 2025/03/13
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