Comparative Analysis of Mefv Mutations in Patients With Familial Mediterranean Fever by Real Time Polymerase Chain Reaction and Next Generation Sequencing-Single Center Experience

Abstract

Purpose: Familial Mediterranean Fever (FMF) is an autoinflammatory disease which is frequently seen in populations of Mediterranean origin. Mutations in the MEFV gene were found to underlie the development of FMF. Therefore, in this study we aimed to investigate the possible differences of next generation sequencing and polymerase chain reaction methods for the detection of MEFV mutations.Materials and methods: This study was carried out in Pamukkale University Hospital Department of Medical Genetics on samples collected between 01.08.2018-12.03.2020. MEFV mutation analysis was performed by using next generation sequencing and polymerase chain reaction methods. Sophia DDM 5.2.1® platform was used for the detection of the MEFV variants by next generation sequencing analysis. Results: MEFV mutation analyses were performed on 341 FMF pre-diagnosed patients. According to polymerase chain reaction results, two hundred and twenty-seven (227/341) of patients had no detectable MEFV mutations and 114 patients had only one heterozygous mutations. When allele numbers and frequencies were evaluated, the most frequently detected variants were M694V(46/341), E148Q(45/341), M680I(12/341), V726A(6/341) and P369S(5/341), respectively. Additionally, new mutations in 41 patients have been observed with next generation sequencing in discordance with polymerase chain reaction analysis. Conclusion: The results of the current study suggest that NGS analysis enable efficient detection of rare MEFV variants as well as the MEFV gene variants frequently observed in FMF patients. Finally, we recommend the physicians the necessity of running molecular tests to identify the exact genotype, and its correlation with disease progression. © 2021, Pamukkale University. All rights reserved.