{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:18:36Z","timestamp":1791332316361,"version":"4.3.1"},"reference-count":52,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T00:00:00Z","timestamp":1737072000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder, particularly present in the Mediterranean populations, and associated with pathogenic variants in the\n                    <jats:italic>MEFV<\/jats:italic>\n                    gene. This study aims to investigate the distribution of\n                    <jats:italic>MEFV<\/jats:italic>\n                    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\n                    <jats:italic>MEFV<\/jats:italic>\n                    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\n                    <jats:italic>MEFV<\/jats:italic>\n                    variants, focusing initially on hot-spot exons. Among the 3,167 patients, 46.73% (N = 1,480) carried at least one\n                    <jats:italic>MEFV<\/jats:italic>\n                    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\n                    <jats:italic>MEFV<\/jats:italic>\n                    variants than those with one variant (\n                    <jats:italic>p<\/jats:italic>\n                    = 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\n                    <jats:italic>MEFV<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2024.1506656","type":"journal-article","created":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T01:53:24Z","timestamp":1737078804000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":20,"title":["Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever"],"prefix":"10.3389","volume":"15","author":[{"given":"Rudy","family":"Feghali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9-Noel","family":"Ibrahim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabiha","family":"Salem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romy","family":"Moussallem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghina","family":"Hijazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charbel","family":"Attieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony","family":"Yammine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Chebly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,1,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1111\/ahg.12404","article-title":"Differential mutational profiles of familial Mediterranean fever in North Africa","volume":"84","author":"Ait-Idir","year":"2020","journal-title":"Ann. 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