Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population

Biologia

Volumn 64, Issue 2, 2009, Pages 388-393

  Koksal, Binnur ^a   Nur, Naim ^a   Sari, Musa ^a   Candan, Ferhan ^a   Acemoglu, Mursit ^b   Kocak, Nadir ^a   Ozen, Filiz ^a   Ozdemir, Ozturk ^a  

^a CUMHURIYET UNIVERSITY   (Turkey)

^b Department of Pediatrics   (Turkey)

Author keywords

Amyloidosis; Familial Mediterranean fever; Genotype phenotype correlations; Mutation in MEFV

Indexed keywords

EID: 67049132791     PISSN: 00063088     EISSN: 13369563     Source Type: Journal    
DOI: 10.2478/s11756-009-0047-1     Document Type: Article

References (36)

1. J.R. Al-Alami M.K. Tayeh D.A. Najib Z.A. Abu-Rubaiha H.A. Majeed M.S. Al-Khateeb H.I. El-Shanti 2003 Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population Saudi Med. J. 24 1055 1059 (Pubitemid 37369129)
2. A. Aldea F. Calafell J.I. Aróstegui O. Lao J. Rius S. Plaza M. Masó J. Vives J. Buades J. Yagüe 2004 The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hotspot" at the MEFV locus Hum. Mutat. 23 399 406
3. E. Ben-Chetrit M. Levy 1998 Familial Mediterranean fever Lancet 351 659 664 (Pubitemid 28098460)
4. J.J. Chae H.D. Komarow J. Cheng G. Wood N. Raben P.P. Liu D.L. Kastner 2003 Targeted disruption of pyrin, the FMF protein causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis Mol. Cell. 11 591 604 (Pubitemid 36385116)
5. J.J. Chae G. Wood S.L. Masters K. Richard G. Park B.J. Smith D.L. Kastner 2006 The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production Proc. Natl. Acad. Sci. USA 103 9982 9987 (Pubitemid 43993609)
6. M. Centola G. Wood D.M. Frucht J. Galon M. Aringer C. Farrell D.W. Kingma M.E. Horwitz E. Mansfield S.M. Holland J.J. O'shea H.F. Rosenberg H.L. Malech D.L. Kastner 2000 The gene for familial Mediterranean fever, MEFV, is expressed in early leucocyte development and is regulated in response to inflammatory mediators Blood 95 3223 3231 (Pubitemid 30321178)
7. X. Chen N. Fischel-Ghodsian A. Cercek M. Hamon G. Ogur R. Lotan Y. Danon M. Shohat 1998 Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF) Hum. Mutat. 11 456 460 (Pubitemid 28196719)
8. C.C. Deltas R. Mean E. Rossou C. Costi P. Koupepidou I. Hadjiyanni V. Hadjiroussos P. Petrou A. Pierides K. Lamnisou M. Koptides 2002 Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus Genet. Test. 6 15 21 (Pubitemid 34620109)
9. M. Dewalle C. Domingo M. Rozenbaum E. Ben-Chétrit D. Cattan A. Bernot C. Dross M. Dupont C. Notarnicola M. Levy I. Rosner J. Demaille I. Touitou 1998 Phenotypegenotype correlation in Jewish patients suffering from familial Mediterranean Fever (FMF) Eur. J. Hum. Genet. 6 95 97 (Pubitemid 28101703)
10. V. Ertekin M.A. Selimoǧlu I. Pirim 2005 Familial Mediterranean fever in a childhood population in eastern Turkey Pediatr. Int. 47 640 644 (Pubitemid 43951544)
11. G.N. Goulielmos E. Fragouli I. Aksentijevich P. Sidiropoulos D.T. Boumpas E. Eliopoulos 2006 Mutational analysis of the PRYSPRY domain of pyrin and implications for familial Mediterranean fever (FMF) Biochem. Biophys. Res. Commun. 345 1326 1332 (Pubitemid 43817878)
12. M. La Regina G. Nucera M. Diaco A. Procopio G. Gasbarrini C. Notarnicola I. Kone-Paut I. Touitou R. Manna 2003 Familial Mediterranean fever is no longer a rare disease in Italy Eur. J. Hum. Genet. 11 50 56 (Pubitemid 36175783)
13. A. Livneh P. Langevitz D. Zemer N. Zaks S. Kees T. Lidar A. Migdal S. Padeh M. Pras 1997 Criteria for the diagnosis of familial Mediterranean fever Arthritis Rheum. 40 1879 1885 (Pubitemid 27452541)
14. H.A. Majeed J.E. Carroll F.A. Khuffash Z. Hijazi 1990 Longterm colchicine prophylaxis in children with familial Mediterranean fever (recurrent hereditary polyserositis) J. Pediatr. 116 997 999 (Pubitemid 20201717)
15. H.A. Majeed M. El-Khateeb H. El-Shanti Z.A. Rabaiha M. Tayeh D. Najib 2005 The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series Semin. Arthritis Rheum. 34 813 818 (Pubitemid 40732456)
16. M. Medlej-Hashim J.L. Serre S. Corbani O. Saab N. Jalkh V. Delague E. Chouery N. Salem J. Loiselet G. Lefranc A. Mégarbané 2005 Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations Eur. J. Med. Genet. 48 412 420 (Pubitemid 43015012)
17. A. Mor Y. Shinar N. Zaks P. Langevitz A. Chetrit S. Shtrasburg E. Rabinovitz A. Livneh 2005 Evaluation of disease severity in familial Mediterranean fever Semin. Arthritis Rheum. 35 57 64 (Pubitemid 41111472)
18. A.R. Odabas R. Cetinkaya Y. Selcuk H. Bilen 2002 Familial Mediterranean fever South. Med. J. 95 1400 1403 (Pubitemid 36207427)
19. F. Onen H. Sumer S. Turkay O. Akyurek M. Tunca H. Ozdogan 2004 Increased frequency of familial Mediterranean fever in Central Anatolia, Turkey Clin. Exp. Rheumatol. 22 31 34
20. F.L. Ozer E. Kaplaman S. Zileli 1971 Familial Mediterranean fever in Turkey: a report of twenty cases Am. J. Med. 50 336 339
21. M. Pras 1998 Familial Mediterranean fever: from the clinical syndrome to the cloning of pyrin gene Scand. J. Rheumatol. 27 92 97 (Pubitemid 28172564)
22. M. Pras N. Bronshpigel D. Zemer J. Gafni 1982 Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups Johns Hopkins Med. J. 150 22 26 (Pubitemid 12222718)
23. D.B. Rogers M. Shohat G.M. Petersen J. Bickal J. Congleton A.D. Schwabe J.I. Rotter 1989 Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency Am. J. Med. Genet. 34 168 172 (Pubitemid 19257629)
24. H. Samli O. Dogru A. Bukulmez E. Yuksel F. Ovali M. Solak 2006 Relationship of Tel-Hashomer criteria and Mediterranean gene mutation in cohort of Turkish familial Mediterranean fever patients Saudi Med. J. 27 1822 1826 (Pubitemid 351850248)
25. T. Sarkisian H. Ajrapetyan G. Shahsuvaryan 2005 Molecular study of FMF patients in Armenia Curr. Drug Targets Inflamm. Allergy 4 113 116 (Pubitemid 40584861)
26. M. Sayarlioglu A. Cefle M. Inanc S. Kamali E. Dalkilic A. Gul L. Ocal O. Aral M. Konice 2005 Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases Int. J. Clin. Pract. 59 202 205 (Pubitemid 40331221)
27. E. Sohar J. Gafni M. Pras H. Heller 1967 Familial Mediterranean fever: a survey of 470 cases and review of the literature Am. J. Med. 43 227 253
28. N. Stoffman N. Magal T. Shohat R. Lotan S. Koman A. Oron Y. Danon G.J. Halpern Y. Lifshitz M. Shohat 2000 Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups Eur. J. Hum. Genet. 8 307 310 (Pubitemid 30336185)
29. The French FMF Consortium. 1997 A candidate gene for familial Mediterranean fever Nat. Genet. 17 25 31
30. The International FMF Consortium. 1997 Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever Cell 90 797 807
31. I. Touitou 2001 The spectrum of familial Mediterranean fever (FMF) mutations Eur. J. Hum. Genet. 9 473 483 (Pubitemid 32750487)
32. I. Touitou S. Lesage M. McDermott L. Cuisset H. Hoffman C. Dode N. Shoham E. Aganna J.P. Hugot C. Wise H. Waterham D. Pugnere J. Demaille C. Sarrauste de Menthiere 2004 Infevers: an evolving mutation database for auto-inflammatory syndromes Hum. Mutat. 24 194 198 (Pubitemid 39095595)
33. M. Tunca S. Akar F. Onen H. Ozdogan O. Kasapcopur F. Yalcinkaya E. Tutar S. Ozen R. Topaloglu E. Yilmaz M. Arici A. Bakkaloglu N. Besbas T. Akpolat A. Dinc E. Erken Turkish FMF Study Group 2005 Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study Medicine (Baltimore) 84 1 11 (Pubitemid 40130180)
34. E. Yilmaz S. Ozen B. Balci A. Duzova R. Topaloglu N. Besbas U. Saatci A. Bakkaloglu M. Ozguc 2001 Mutation frequency of familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population Eur. J. Hum. Genet. 9 553 555 (Pubitemid 32750497)
35. N. Zaks Y. Shinar S. Padeh M. Lidar A. Mor I. Tokov M. Pras P. Langevitz E. Pras A. Livneh 2003 Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever Med. Assoc. J. 5 585 588 (Pubitemid 36992254)
36. D. Zemer A. Livneh Y.L. Danon M. Pras E. Sohar 1991 Long-term colchicine treatment in children with familial Mediterranean fever Arthritis Rheum 34 973 977