A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family

Arthritis and Rheumatism

Volumn 43, Issue 7, 2000, Pages 1535-1542

  Dodé, Catherine ^a,f   Papo, Thomas ^b   Fieschi, Claire ^b   Pêcheux, Christophe ^a   Dion, Elisabeth ^b   Picard, Françoise ^c   Godeau, Pierre ^b   Bienvenu, Jacques ^d   Piette, Jean Charles ^b   Delpech, Marc ^a   Grateau, Gilles ^e  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c Université Paris Descartes   (France)

^d CENTRE HOSPITALIER LYON SUD   (France)

^e HÔTEL DIEU   (France)

^f Lab de Biochim et Genet Molec   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TUMOR NECROSIS FACTOR RECEPTOR;

ADULT; ARTICLE; CLINICAL ARTICLE; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILY STUDY; FEMALE; FEVER; FRANCE; GENE EXPRESSION; GENE SEQUENCE; HUMAN; MALE; MISSENSE MUTATION; MYOSITIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; RECURRENT DISEASE;

ADOLESCENT; ADULT; ANTIGENS, CD; DNA PRIMERS; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; FEVER; FLOW CYTOMETRY; FRANCE; GENES, DOMINANT; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOSITIS; POLYMERASE CHAIN REACTION; RECEPTORS, TUMOR NECROSIS FACTOR; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE II; RECURRENCE; SEQUENCE ANALYSIS, DNA;

EID: 0033919244     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/1529-0131(200007)43:7<1535::AID-ANR18>3.0.CO;2-C     Document Type: Article

References (29)

1. Centola M, Aksentijevich I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory disease. Hum Mol Genet 1998;7:1581-8.
2. Grateau G, Drenth JPH, Delpech M. Hereditary fevers. Curr Opin Rheumatol 1999;11:75-8.
3. Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med 1967;43:227-53.
4. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
5. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797-807.
6. Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994;73:133-44.
7. Drenth JPH, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JGN, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 1999;22:180-3.
8. Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999;22:175-7.
9. Gertz MA, Pettit RM, Kyle RA. Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis. Mayo Clin Proc 1987;62:1095-100.
10. Bouronel BA, Doan CA. Periodic fever: occurrence in five generations. Am J Med 1957;23:502-6.
11. McDermott EM, Smillie DM, Powell RJ. Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family. Mayo Clin Proc 1997;72:806-17.
12. Mulley J, Saar K, Hewitt G, Rûschendorf F, Phillips H, Colley A, et al. Gene localization for an autosomal dominant familial periodic fever to 12p13. Am J Hum Genet 1998;62:884-9.
13. McDermott MF, Ogunkolade BW, McDermott EM, Jones LC, Wan Y, Quane KA, et al. Linkage of familial Hibernian fever to chromosome 12p13. Am J Hum Genet 1998;62:1446-61.
14. Osborn L, Kunkel S, Nabel GJ. Tumor necrosis factor alpha and interleukin 1 stimulate the human immunodeficiency virus enhancer by activation of the nuclear factor kappa B. Proc Natl Acad Sci U S A 1989;86:2236-40.
15. McDermott MF, Aksentijevich I, Galon J, McDermott E, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97:133-44.
16. Sambrook J, Fritsch E, Maniatis TM. Molecular cloning: a laboratory manual. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 1989.
17. Loetscher H, Pan Y-CE, Lahm HW, Gentz R, Brockhaus M, Tabuchi M, et al. Molecular cloning and expression of the human 55 kd tumor necrosis factor receptor. Cell 1990;61:351-9.
18. Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 1998;7:1317-25.
19. Muller K, Herner EB, Stagg A, Bendtzen K, Woo P. Inflammatory cytokines and cytokine antagonists in whole blood cultures of patients with systemic juvenile chronic arthritis. Br J Rheumatol 1998;37:562-9.
20. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci U S A 1997;94:3195-9.
21. Majeed HA, Quabazand Z, Hijazi Z, Farwana S, Harshani F. The cutaneous manifestations in children with familial Mediterranean fever (recurrent polyserositis): a six-year study. QJM 1990;278: 607-16.
22. Smith C, Farrah T, Goodwin RG. The TNF receptor superfamily of cellular and viral proteins: activation, costimulation, and death. Cell 1994;76:959-62.
23. Jones MD, Hunt J, Liu JL, Patterson SD, Kohno T, Lu HS. Determination of tumor necrosis factor binding protein disulfide structure: deviation of the fourth domain structure from the TNFR/NGFR family cysteine-rich region signature. Biochemistry 1997;36:14914-23.
24. Marsters SA, Frutkin AD, Simpson NJ, Fendly BM, Ashkenazi A. Identification of cysteine-rich domains of the type 1 tumor necrosis factor receptor involved in ligand binding. J Biol Chem 1992;267:5747-50.
25. Corcoran AE, Barrett K, Turner M, Brown A, Kissonerghis AM, Gadnell M, et al. Characterization of ligand binding by the human p55 tumour-necrosis-factor receptor: involvement of individual cysteine-rich repeats. Eur J Biochem 1994;223:831-40.
26. Bazzoni F, Beutler B. The tumor necrosis factor ligand and receptor families. N Engl J Med 1996;334:1717-25.
27. Aderka D, Engelmann H, Maor Y, Brakebusch C, Wallach D. Stabilization of the bioactivity of tumour necrosis factor by its soluble receptors. J Exp Med 1992;175:323-9.
28. Girardin E, Roux-Lombard P, Grau GE, Suter P, Gallati H, Dayer JM. Imbalance between tumor necrosis factor α and soluble TNF receptor concentrations in severe meningo-coccaemia. Immunology 1992;76:20-3.
29. Bazzoni F, Alejos E, Beutler B. Chimeric tumor necrosis factor receptors with constitutive signaling activity. Proc Natl Acad Sci U S A 1995;92:5376-80.