Familial mediterranean fever: A retrospective clinical and molecular study in the east of anatolia region of Turkey

Open Rheumatology Journal

Volumn 4, Issue , 2010, Pages 1-6

  Etem, Ebru Onalan ^a   Deveci, Sukriye Derya ^a   Erol, Deniz ^a   Yuce, Huseyin ^a   Elyas, Halit ^a  

^a FIRAT UNIVERSITY   (Turkey)

Author keywords

Familial mediterranean fever; Genetic counseling; M694V mutation; Mutation screening

Indexed keywords

ADULT; ALLELE; ARTICLE; CHILD; CLINICAL STUDY; CONTROLLED STUDY; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; ONSET AGE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TURKEY (REPUBLIC);

EID: 77953433265     PISSN: None     EISSN: 18743129     Source Type: Journal    
DOI: 10.2174/1874312901004010001     Document Type: Article

References (57)

1. The French FMF Consortium. A candidate gene for familial mediterranean fever. Nat Genet 1997; 17: 25-31.
2. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial mediterranean fever. Arthritis Rheum 1997; 40: 1879-85.
3. Kastner DL, Aksentijevich I. Intermittent and periodic arthritis syndromes. In: Koopman WJ, Moreland LW, Eds. Arthritis And Allied Conditions: A Textbook Of Rheumatology. 15th ed. Philadelphia: Lippincott Williams & Wilkins 2005; pp. 1411-61.
4. Touitou I, Picot MC, Domingo C, et al. The MICA region determines the first modifier locus in familial mediterranean fever. Arth Rheum 2001; 44; 163-9.
5. Ozen S, Hoffman HM, Frenkel J, Kastner D. Familial Mediterranean Fever (FMF) and beyond: A new horizon. Fourth international congress on the systemic autoinflammatory diseases held in Bethesda. Ann Rheum Dis 2006; 65: 961-4.
6. Ben-Chetrit E, Levy M. Colchicine update. Semin Arthritis Rheum 1998; 28: 48-59.
7. Pras E, Livneh A, Balow JE, et al. Clinical differences between North African and Iraqi Jews with Familial Mediterranean Fever. Am J Med Genet 1998; 13: 75: 216-9.
8. Kogan A, Shinar Y, Lidar M, et al. Common MEFV mutations among Jewish Ethnic groups in Israel: High frequency of carrier and phenotype i{dotless}i{dotless}i{dotless} states and absence of a perceptible biological advantage for the carrier state. Am J Med Genet 2001; 102: 272-6.
9. Stoffman N, Magal N, Shohat T, et al. Higher than expected carrier rates for Familial Mediterranean Fever in various jewish ethnic groups. Eur J Hum Genet 2000; 8: 307-10.
10. Yilmaz E, Ozen S, Balci B, et al. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001; 9: 553-5.
11. Yalcinkaya F, Cakar N, Misirlioǧlu M, et al. Genotype-phenotype correlation in a large group of turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis. Rheumatology (Oxford) 2000; 39: 67-72.
12. Hiller S, Kohl A, Fiorito F, et al. NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain. Structure (Camb) 2003; 11: 1199-205.
13. Mcdermott MF. A common pathway in periodic fever syndromes. Trends Immunol 2004; 25: 457-60.
14. 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.
15. Stehlik C, Lee SH, Dorfleutner A, Stassinopoulos A, Sagara J, Reed JC. Apoptosis-associated speck-like protein containing a caspase recruitment domain is a regulator of procaspase-1 activation. J Immunol 2003; 171: 6154-63.
16. Sohar E, Gafni J, Pras M, et al. Familial Mediterranean Fever. A survey of 470 cases and review of literature. Am J Med 1967; 43: 227-53.
17. Samuels J, Aksentijevich I, Torosyan Y, et al. Familial Mediterranean Fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore) 1998; 77: 268-97.
18. Rogers DB, Shohat M, Petersen GM, et al. Familial Mediterranean Fever in Armenians: autosomal recessive inheritance with high gene frequency. Am J Med Genet 1989; 34: 168-72.
19. Medlej-Hashim M, Delague V, Chouery E, et al. Megarbane, amyloidosis in Familial Mediterranean Fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. BMC Med Genet 2005; 10; 5-4.
20. Langevitz P, Livneh A, Neumann L, et al. Prevalence of ischemic heart disease in patients with familial Mediterranean fever. Isr Med Assoc J 2001; 3: 9-12.
21. Oberkanins C, Weinhausel A, Krieqshauser G, et al. Genetic testing for Familial Mediterranean Fever in Austria by means of reverse-hybridization teststrips. Clin Chem 2003; 49: 1948-50.
22. Eisenberg S, Aksentijevich I, Deng Z, Kastner D, Matzner Y. Diagnosis of Familial Mediterranean Fever by a molecular genetic method. Ann Intern Med 1998: 129: 539-42.
23. Akin H, Onay H, Turker E, Cogulu O, Ozkinay F. MEFV mutations in patients with Familial Mediterranean Fever from the aegean region of Turkey. Mol Biol Rep 2009; [Epub ahead of print].
24. Ozturk A, Ozcakar B, Ekim M, Akar N. Is MEFV gene Arg202GLN (605 G[A) A disease-causing mutation? Turk J Med Sci 2008; 38: 205-8.
25. Solak M, Yildiz H, Koken R, et al. Analysis of Familial Mediterranean Fever gene mutations in 202 patients with familial mediterranean fever. Genet Test 2008; 12: 341-4.
26. Sahin FI, Yilmaz Z, Yurtcu E, Baskin E. Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF. Genet Test 2008; 12: 171-4.
27. Pasa S, Altintas A, Devecioglu B, et al. Familial Mediterranean Fever gene mutations in the southeastern region of Turkey and their phenotypical features. Amyloid 2008; 15: 49-53.
28. Yigit S, Bagci H, Ozkaya O, Ozdamar K, Cengiz K, Akpolat T. MEFV mutations in patients with Familial Mediterranean Fever in The Black Sea Region of Turkey: Samsun experience [Corrected]. J Rheumatol 2008; 35: 106-13.
29. Taştan H, Ayvali C, Durgun IS. Direct detection of common mutations in the Familial Mediterranean Fever gene by using PCR methods. J Med Sci 2004; 24: 445-9.
30. Evliyaoglu O, Bilici S, Yolbas I, Kelekçi S, Sen V. Diyarbaki{dotless}r Yöresi Ailevi Akdeniz Atesli Çocuklarda MEFV Gen Mutasyon Si{dotless}kli{dotless}klari{dotless}. Dicle Ti{dotless}p Dergisi 2009; 36: 80-4.
31. The Turkish FMF Study Group. Familial Mediterranean Fever (FMF) in Turkey: The results of a nationwide multicenter study. Medicine (Baltimore) 2005; 84: 1-11.
32. Al-Alami JR, Tayeh MK, Najib DA, et al. Familial Mediterranean Fever mutation frequencies and carrier rates among a mixed arabic population. Saudi Med J 2003; 24: 1055-9.
33. Duşunsel R, Dursun I, Gunduz Z, Poyrazoǧlu MH, Gurgoze MK, Dundar M. Genotype-phenotype correlation in children with Familial Mediterranean Fever in a Turkish population. Pediatr Int 2008; 50: 208-12.
34. Brik R, Shinawi M, Kepten I, Bernat M, Gershoni-Baruch R. Familial Mediterranean Fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. Pediatrics 1999; 103: E70.
35. Chen X, Fischel-Ghodsian N, Cercek A, et al. Assessment of pyrin gene mutations in turks with Familial Mediterranean Fever (FMF). Hum Mutat 1998; 11: 456-60.
36. Olgun A, Akman S, Kurt I, et al. MEFV mutations in Familial Mediterranean Fever: Association of M694V hemozygosity with arthritis. Rheumatol Int 2004; 15: 1-9.
37. Tunca M, Akar S, Onen F, et al. Turkish FMF Study Group. Familial Mediterranean Fever (FMF) in Turkey: Results of a nationwide multicenter study. Medicine (Baltimore) 2005; 84: 1-11.
38. Bernot A, da Silva C, Petit JL, 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.
39. Askentijevich I, Torosyan Y, Samuels J, et al. Mutational and haplotype studies in Familial Mediterranean Fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999; 64: 949-62.
40. Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat 2003; 22: 339-40.
41. Lachmann HJ, Sengul B, Yavuzsen TU, et al. Clinical and subclinical inflammation in patients with Familial Mediterranean Fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 2006; 45: 746-50.
42. Tchernitchko D, Moutereau S, Legendre M, et al. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in western European Caucasian patients. Arthritis Rheum 2005; 52: 3603-5.
43. 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(6): 1851-61.
44. Booth DR, Gillmore JD, Lachmann HJ, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM 2000; 93: 217-21.
45. 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; 124A: 67-73.
46. Singh-Grewal D, Chaitow J, Aksentijevich I, Christodoulou J. Coexistent MEFV and CIAS1 mutations manifesting as Familial Mediterranean Fever plus deafness [letter]. Ann Rheum Dis 2007; 66: 1541.
47. Stojanov S, Kastner DL. Familial autoinflammatory diseases: Genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005; 17: 586-99.
48. Touitou I, Perez C, Dumont B, Federici L, Jorgensen C. 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.
49. Arkwright PD, McDermott MF, Houten SM, et al. Hyper IgD syndrome (HIDS) associatedwith in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin Exp Immunol 2002; 130: 484-8.
50. Cazeneuve C, Ajrapetyan H, Papin S, et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 2000; 67: 1136-43.
51. Federici L, Rittore-Domingo C, Kone-Paut I, et al. A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis 2006; 65: 1427-32.
52. Padeh S, Shinar Y, Pras E, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever. J Rheumatol 2003; 30: 185-90.
53. Papadopoulos V, Mitroulis I, Giaglis S. MEFV heterogeneity in Turkish Familial Mediterranean Fever patients. Mol Biol Rep 2009; [Epub Ahead Of Print].
54. Kelly TE. Clinical genetics and genetic counseling. Chicago: Year Book Medical 1986.
55. Kessler S, Kessler H, Ward P. Psychological aspects of genetic counseling. III. Management of guilt and shame. Am J Med Genet 1984; 17: 673-9.
56. Tuncbilek E. Clinical outcomes of consanguineous marriages in Turkey. Turk J Pediatr 2001; 43: 277-9.
57. Turkiye Nufus ve Sagli{dotless}k Ara ti{dotless}rmasi{dotless} TNSA 2003, Analiz ve Rapor, Hacettepe Universitesi Nufus Etutleri Enstitusu, Ankara, 2004. Available at: www.hips.hacettepe.edu.tr/tnsa2003/analizrapor.htm-15k.