Genetic Evaluation of Iranian Patients With Familial Mediterranean Fever in the Southwest of Iran

Background & Objective: 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. Materials & 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.