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

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...

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Published inJournal 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
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Published England John Wiley & Sons, Inc 01.10.2020
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Abstract 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 aimed to revisit the genetic landscape of FMF disease using high‐coverage whole genome sequencing. In atypical patients (carrying a single or no mutation in MEFV), we revealed many rare variants in genes associated with auto‐inflammatory disorders, and more interestingly, we discovered a novel variant ( a 2.1‐Kb deletion) in exon 11 of IL1RL1 gene, present only in patients. To validate and screen this patient‐specific variant, a tandem of allele‐specific PCR and quantitative real‐time PCR was performed in 184 FMF patients and 218 healthy controls and we demonstrated that the novel deletion was absent in controls and was present in more than 19% of patients. This study sheds more light on the mutational landscape of FMF. Our discovery of a disease‐specific variant in IL1RL1 gene may constitute a novel genetic marker for FMF. This finding suggesting a potential role of the IL33/ST2 signalling in the disease pathogenicity highlights a new paradigm in FMF pathophysiology.
AbstractList 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 aimed to revisit the genetic landscape of FMF disease using high‐coverage whole genome sequencing. In atypical patients (carrying a single or no mutation in MEFV ), we revealed many rare variants in genes associated with auto‐inflammatory disorders, and more interestingly, we discovered a novel variant ( a 2.1‐Kb deletion) in exon 11 of IL1RL1 gene, present only in patients. To validate and screen this patient‐specific variant, a tandem of allele‐specific PCR and quantitative real‐time PCR was performed in 184 FMF patients and 218 healthy controls and we demonstrated that the novel deletion was absent in controls and was present in more than 19% of patients. This study sheds more light on the mutational landscape of FMF. Our discovery of a disease‐specific variant in IL1RL1 gene may constitute a novel genetic marker for FMF. This finding suggesting a potential role of the IL33/ST2 signalling in the disease pathogenicity highlights a new paradigm in FMF pathophysiology.
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 aimed to revisit the genetic landscape of FMF disease using high‐coverage whole genome sequencing. In atypical patients (carrying a single or no mutation in MEFV), we revealed many rare variants in genes associated with auto‐inflammatory disorders, and more interestingly, we discovered a novel variant ( a 2.1‐Kb deletion) in exon 11 of IL1RL1 gene, present only in patients. To validate and screen this patient‐specific variant, a tandem of allele‐specific PCR and quantitative real‐time PCR was performed in 184 FMF patients and 218 healthy controls and we demonstrated that the novel deletion was absent in controls and was present in more than 19% of patients. This study sheds more light on the mutational landscape of FMF. Our discovery of a disease‐specific variant in IL1RL1 gene may constitute a novel genetic marker for FMF. This finding suggesting a potential role of the IL33/ST2 signalling in the disease pathogenicity highlights a new paradigm in FMF pathophysiology.
Author Chouery, Eliane
Megarbane, Andre
Chouchane, Lotfi
Aliyev, Elbay
Ismail Chouchane, Aouatef
Jithesh, Puthen
Temanni, Ramzi
Syed, Najeeb
Mansour, Issam
Umar, Meenakshi
Shan, Jingxuan
AuthorAffiliation 3 Centre Medical et Psychopedagogique Beirut Lebanon
1 Laboratory of Inflammation Research Immunology Department Sidra Medicine Doha Qatar
7 Medical School Lebanese American University Beirut Lebanon
9 American University of Science and Technology (AUST) Beirut Lebanon
2 Institut Jérôme Lejeune Paris France
4 Laboratory of Genetic Medicine and Immunology Weill Cornell Medicine‐Qatar Qatar
5 Department of Genetic Medicine Weill Cornell Medicine New York NY USA
8 Human Genetics Department Sidra Medicine Doha Qatar
6 Biomedical Informatics Division Sidra Medicine Doha Qatar
10 Department of Microbiology & Immunology Weill Cornell Medicine New York NY USA
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– name: 10 Department of Microbiology & Immunology Weill Cornell Medicine New York NY USA
– name: 2 Institut Jérôme Lejeune Paris France
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CitedBy_id crossref_primary_10_1097_BOR_0000000000000821
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Keywords IL1RL1
MEFV
Familial Mediterranean Fever
Whole Genome Sequencing
Language English
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This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
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Notes Meenakshi Umar, Andre Megarbane and Jingxuan Shan contributed equally to this manuscript.
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Snippet Familial Mediterranean fever (FMF) is the most common auto‐inflammatory disease. It is transmitted as autosomal recessive trait with mutations in MEditerranean...
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease. It is transmitted as autosomal recessive trait with mutations in MEditerranean...
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SubjectTerms 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
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Title Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling
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Volume 24
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