MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

Annals of the Rheumatic Diseases

Volumn 73, Issue 2, 2014, Pages 455-461

  Stoffels, Monique ^a,b,c   Szperl, Agata ^d   Simon, Anna ^a,b,c   Netea, Mihai G ^a,b,c   Plantinga, Theo S ^a,b   Van Deuren, Marcel ^a,b   Kamphuis, Sylvia ^e   Lachmann, Helen J ^f   Cuppen, Edwin ^g   Kloosterman, Wigard P ^g   Frenkel, Joost ^g   Van Diemen, Cleo C ^d   Wijmenga, Cisca ^d   Van Gijn, Marielle ^g   Van Der Meer, Jos W M ^a,b,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Nijmegen Center for Infection Inflammation and Immunity (N4i)   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COLCHICINE; CYTOPLASM PROTEIN; INTERLEUKIN 1ALPHA; INTERLEUKIN 1BETA; INTERLEUKIN 6; MESSENGER RNA; PYRIN PROTEIN; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANEMIA; ARTHRITIS; ARTICLE; AUTOINFLAMMATORY DISEASE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; CYTOKINE RESPONSE; EXOME; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEVER; GENE; GROWTH DISORDER; HEPATOMEGALY; HEREDITARY PERIODIC FEVER; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MEFV GENE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PERIPHERAL BLOOD MONONUCLEAR CELL; PERITONITIS; PLEURISY; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RASH; REMISSION; SEQUENCE ANALYSIS; SPLENOMEGALY; SYNOVITIS; URTICARIA;

EID: 84891668869     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2012-202580     Document Type: Article

References (52)

1. Lachmann HJ. Clinical immunology review series: an approach to the patient with a periodic fever syndrome. Clin Exp Immunol 2011;165:301-9.
2. *). Annu Rev Immunol 2009;27:621-68.
3. Goldbach-Mansky R. Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1. Clin Exp Immunol 2012;167:391-404.
4. Van Der Hilst JC, Bodar EJ, Barron KS, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 2008;87:301-10.
5. Bonnefond A, Durand E, Sand O, et al. Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PLoS One 2010;5:e13630.
6. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010;26:589-95.
7. McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010;20:1297-303.
8. Adamusiak T, Parkinson H, Muilu J, et al. Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information. Hum Mutat 2012;33:867-73.
9. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
10. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-81.
11. Mathe E, Olivier M, Kato S, et al. Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res 2006;34:1317-25.
12. Tavtigian SV, Deffenbaugh AM, Yin L, et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 2006;43:295-305.
13. Gilissen C, Hoischen A, Brunner HG, et al. Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012;20:490-7.
14. MacArthur DG, Balasubramanian S, Frankish A, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012;335:823-8.
15. Sudmant PH, Kitzman JO, Antonacci F, et al. Diversity of human copy number variation and multicopy genes. Science 2010;330:641-6.
16. Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010;42:30-5.
17. Nijman IJ, Mokry M, Van Boxtel R, et al. Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples. Nat Methods 2010;7:913-15.
18. Hirschfeld M, Weis JJ, Toshchakov V, et al. Signaling by toll-like receptor 2 and 4 agonists results in differential gene expression in murine macrophages. Infect Immun 2001;69:1477-82. (Pubitemid 32187597)
19. Piccini A, Carta S, Tassi S, et al. ATP is released by monocytes stimulated with pathogen-sensing receptor ligands and induces IL-1beta and IL-18 secretion in an autocrine way. Proc Natl Acad Sci U S A 2008;105:8067-72. (Pubitemid 351904709)
20. A map of human genome variation from population-scale sequencing. Nature 2010;467:1061-73.
21. Grutter C, Briand C, Capitani G, et al. Structure of the PRYSPRY-domain: implications for autoinflammatory diseases. FEBS Lett 2006;580:99-106. (Pubitemid 43005320)
22. Woo JS, Imm JH, Min CK, et al. Structural and functional insights into the B30.2/SPRY domain. EMBO J 2006;25:1353-63.
23. Keeble AH, Khan Z, Forster A, et al. TRIM21 is an IgG receptor that is structurally, thermodynamically, and kinetically conserved. Proc Natl Acad Sci U S A 2008;105:6045-50. (Pubitemid 351758396)
24. Weinert C, Grutter C, Roschitzki-Voser H, et al. The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever. J Mol Biol 2009;394:226-36.
25. Nersisyan L, Arakelyan A. In silico structure characterization of Familial Mediterranean fever gene product (pyrin) [2012 4th International Conference on Bioinformatics and Biomedical Technology]. Int Proc Chem Biol Environ Eng 2012;29:40-4.
26. Chae JJ, Wood G, Richard K, et al. The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment. Blood 2008;112:1794-803.
27. Diaz A, Hu C, Kastner DL, et al. Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. Arthritis Rheum 2004;50:3679-89. (Pubitemid 39488697)
28. Mansfield E, Chae JJ, Komarow HD, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001;98:851-9.
29. Martinon F, Tschopp J. Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases. Cell 2004;117:561-74. (Pubitemid 38692523)
30. Chae JJ, Komarow HD, Cheng J, et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 2003;11:591-604. (Pubitemid 36385116)
31. Chae JJ, Wood G, Masters SL, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci U S A 2006;103:9982-7. (Pubitemid 43993609)
32. Hall MW, Gavrilin MA, Knatz NL, et al. Monocyte mRNA phenotype and adverse outcomes from pediatric multiple organ dysfunction syndrome. Pediatr Res 2007;62:597-603. (Pubitemid 351338997)
33. Papin S, Cuenin S, Agostini L, et al. The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ 2007;14:1457-66. (Pubitemid 47096500)
34. Seshadri S, Duncan MD, Hart JM, et al. Pyrin levels in human monocytes and monocyte-derived macrophages regulate IL-1beta processing and release. J Immunol 2007;179:1274-81.
35. Yu JW, Wu J, Zhang Z, et al. Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. Cell Death Differ 2006;13:236-49. (Pubitemid 43102207)
36. Chae JJ, Cho YH, Lee GS, et al. Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1beta activation and severe autoinflammation in mice. Immunity 2011;34:755-68.
37. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell 1997;90:797-807.
38. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
39. Yuval Y, Hemo-Zisser M, Zemer D, et al. Dominant inheritance in two families with familial Mediterranean fever (FMF). Am J Med Genet 1995;57:455-7.
40. Van Gijn ME, Soler S, De La Chapelle C, et al. Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres. Eur J Hum Genet 2008;16:1404-6.
41. Singh-Grewal D, Chaitow J, Aksentijevich I, et al. Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness. Ann Rheum Dis 2007;66:1541. (Pubitemid 350032668)
42. Touitou I, Perez C, Dumont B, et al. Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations. Ann Rheum Dis 2006;65:1530-1. (Pubitemid 44629137)
43. Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005;17:586-99. (Pubitemid 41527820)
44. Booty MG, Chae JJ, Masters SL, et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum 2009;60:1851-61.
45. Kirectepe AK, Kasapcopur O, Arisoy N, et al. Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever. BMC Med Genet 2011;12:105.
46. Booth DR, Gillmore JD, Lachmann HJ, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM 2000;93:217-21. (Pubitemid 30198958)
47. Caglar MK, Altugan FS, Ozyurt H, et al. Screening of family members of children with Familial Mediterranean Fever: true-autosomal and pseudo-autosomal inheritance. Acta Reumatol Port 2008;33:415-20.
48. Kastner DL. Familial Mediterranean fever: the genetics of inflammation. Hosp Pract (Minneap) 1998;33:131-4, 139-140, 143-136 passim.
49. Porrello M, Ciaccio C, Gallerano P, et al. [Familial Mediterranean Fever: a case of dominant transmission with variable penetrance]. Pediatr Med Chir 2003;25:289-91.
50. Tanaka N, Izawa K, Saito MK, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum 2011;63:3625-32.
51. Aldea A, Campistol JM, Arostegui JI, et al. A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? Am J Med Genet A 2004;124 A: 67-73. (Pubitemid 38139818)
52. Zhang SQ, Jiang T, Li M, et al. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet 2012;44:1156-60.