Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling

• Published in: Journal of cellular and molecular medicine Vol. 24; no. 19; pp. 11294 - 11306
• Main Authors: Umar, Meenakshi, Megarbane, Andre, Shan, Jingxuan, Syed, Najeeb, Chouery, Eliane, Aliyev, Elbay, Jithesh, Puthen, Temanni, Ramzi, Mansour, Issam, Chouchane, Lotfi, Ismail Chouchane, Aouatef
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.10.2020; John Wiley and Sons Inc
• Subjects: Adolescent; Case-Control Studies; Deoxyribonucleic acid; Disease; DNA; DNA Copy Number Variations - genetics; Familial Mediterranean Fever; Familial Mediterranean Fever - genetics; Female; Fever; Gene Deletion; Genes; Genes, Modifier; Genetic markers; Genetic Predisposition to Disease; Genome, Human; Genomes; Genomics; Humans; IL1RL1; Inflammation; Inflammation - genetics; Inflammation - pathology; Inflammatory diseases; Interleukin 1; Interleukin-1 Receptor-Like 1 Protein - metabolism; Interleukin-33 - metabolism; Male; MEFV; Mutation; Mutation - genetics; Original; Pathogenicity; Pyrin - genetics; Pyrin protein; Sequence Analysis, DNA; Signal Transduction; Whole Genome Sequencing; Lebanon; Beirut Lebanon; Qatar; IL1RL1; MEFV; Familial Mediterranean Fever; Whole Genome Sequencing

Familial Mediterranean fever (FMF) is the most common auto‐inflammatory disease. It is transmitted as autosomal recessive trait with mutations in MEditerranean FeVer (MEFV) gene. Despite a typical clinical expression, many patients have either a single or no mutation in MEFV. The current work is aim...