Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder, particularly present in the Mediterranean populations, and associated with pathogenic variants in the MEFV gene. This study aims to investigate the distribution of MEFV variants in a large cohort of Lebanese patients, and...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1506656/full |
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| author | Rudy Feghali José-Noel Ibrahim Nabiha Salem Romy Moussallem Ghina Hijazi Charbel Attieh Tony Yammine Alain Chebly Alain Chebly |
| author_facet | Rudy Feghali José-Noel Ibrahim Nabiha Salem Romy Moussallem Ghina Hijazi Charbel Attieh Tony Yammine Alain Chebly Alain Chebly |
| author_sort | Rudy Feghali |
| collection | DOAJ |
| description | Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder, particularly present in the Mediterranean populations, and associated with pathogenic variants in the MEFV gene. This study aims to investigate the distribution of MEFV variants in a large cohort of Lebanese patients, and to explore the genotype-phenotype correlation among affected individuals. A retrospective analysis was conducted on 3,167 patients referred for MEFV sequencing at the Medical Genetics and Genomics Center(CGGM) at Saint-Joseph University of Beirut-Lebanon, from 2006 to 2023. Sanger sequencing was used to detect MEFV variants, focusing initially on hot-spot exons. Among the 3,167 patients, 46.73% (N = 1,480) carried at least one MEFV variant. The most common variants detected were M694V and V726A, both found in 28.98% of cases, followed by E148Q(27.83%) and M694I(13.98%). Moreover, Shiites and Sunni Muslims, and individuals from South and North Lebanon exhibited the highest frequency of variants. Interestingly, family history was found to be significantly higher in patients having two MEFV variants than those with one variant (p = 0.0026). The most commonly reported symptoms were fever(78%), abdominal pain(88%), joint pain(65%), and thoracic pain(46%). The genotype-phenotype correlation analysis revealed a more severe phenotype in patients carrying the M694V or V726A mutations compared to those with the homozygous E148Q genotype. This study, the largest in Lebanon, highlights the high prevalence of MEFV variants, particularly M694V and V726A, in FMF patients. Our data provide valuable insights into the genetic landscape of FMF in Lebanon and emphasize the importance of early genetic screening for a better disease management and genetic counselling. |
| format | Article |
| id | doaj-art-0d338e6a5c144a63ba9c56ccd6061221 |
| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-0d338e6a5c144a63ba9c56ccd60612212025-01-17T06:51:14ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-01-011510.3389/fgene.2024.15066561506656Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean FeverRudy Feghali0José-Noel Ibrahim1Nabiha Salem2Romy Moussallem3Ghina Hijazi4Charbel Attieh5Tony Yammine6Alain Chebly7Alain Chebly8Faculty of Medicine, Saint Joseph University of Beirut, Beirut, LebanonDepartment of Biological Sciences, School of Arts and Sciences, Lebanese American University (LAU), Beirut, LebanonCenter Jacques Loiselet for Medical Genetics and Genomics (CGGM), Faculty of Medicine, Saint Joseph University of Beirut (USJ), Beirut, LebanonCenter Jacques Loiselet for Medical Genetics and Genomics (CGGM), Faculty of Medicine, Saint Joseph University of Beirut (USJ), Beirut, LebanonCenter Jacques Loiselet for Medical Genetics and Genomics (CGGM), Faculty of Medicine, Saint Joseph University of Beirut (USJ), Beirut, LebanonCenter Jacques Loiselet for Medical Genetics and Genomics (CGGM), Faculty of Medicine, Saint Joseph University of Beirut (USJ), Beirut, LebanonCenter Jacques Loiselet for Medical Genetics and Genomics (CGGM), Faculty of Medicine, Saint Joseph University of Beirut (USJ), Beirut, LebanonFaculty of Medicine, Saint Joseph University of Beirut, Beirut, LebanonCenter Jacques Loiselet for Medical Genetics and Genomics (CGGM), Faculty of Medicine, Saint Joseph University of Beirut (USJ), Beirut, LebanonFamilial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder, particularly present in the Mediterranean populations, and associated with pathogenic variants in the MEFV gene. This study aims to investigate the distribution of MEFV variants in a large cohort of Lebanese patients, and to explore the genotype-phenotype correlation among affected individuals. A retrospective analysis was conducted on 3,167 patients referred for MEFV sequencing at the Medical Genetics and Genomics Center(CGGM) at Saint-Joseph University of Beirut-Lebanon, from 2006 to 2023. Sanger sequencing was used to detect MEFV variants, focusing initially on hot-spot exons. Among the 3,167 patients, 46.73% (N = 1,480) carried at least one MEFV variant. The most common variants detected were M694V and V726A, both found in 28.98% of cases, followed by E148Q(27.83%) and M694I(13.98%). Moreover, Shiites and Sunni Muslims, and individuals from South and North Lebanon exhibited the highest frequency of variants. Interestingly, family history was found to be significantly higher in patients having two MEFV variants than those with one variant (p = 0.0026). The most commonly reported symptoms were fever(78%), abdominal pain(88%), joint pain(65%), and thoracic pain(46%). The genotype-phenotype correlation analysis revealed a more severe phenotype in patients carrying the M694V or V726A mutations compared to those with the homozygous E148Q genotype. This study, the largest in Lebanon, highlights the high prevalence of MEFV variants, particularly M694V and V726A, in FMF patients. Our data provide valuable insights into the genetic landscape of FMF in Lebanon and emphasize the importance of early genetic screening for a better disease management and genetic counselling.https://www.frontiersin.org/articles/10.3389/fgene.2024.1506656/fullFamilial Mediterranean FeverFMFgenotype-phenotype correlationrecurrent feverMEFVvariants |
| spellingShingle | Rudy Feghali José-Noel Ibrahim Nabiha Salem Romy Moussallem Ghina Hijazi Charbel Attieh Tony Yammine Alain Chebly Alain Chebly Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever Frontiers in Genetics Familial Mediterranean Fever FMF genotype-phenotype correlation recurrent fever MEFV variants |
| title | Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever |
| title_full | Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever |
| title_fullStr | Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever |
| title_full_unstemmed | Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever |
| title_short | Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever |
| title_sort | updates on the molecular spectrum of mefv variants in lebanese patients with familial mediterranean fever |
| topic | Familial Mediterranean Fever FMF genotype-phenotype correlation recurrent fever MEFV variants |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2024.1506656/full |
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