Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients

Saudi Medical Journal

Volumn 27, Issue 12, 2006, Pages 1822-1826

  Samli, Hale ^a,b   Dogru, Omer ^a   Bukulmez, Aysegul ^a   Yuksel, Erdine ^a   Ovali, Fahri ^a   Solak, Mustafa ^a  

^a AFYON KOCATEPE UNIVERSITY   (Turkey)

^b NONE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MEDITERRANEAN FEVER PROTEIN;

ADOLESCENT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILIAL MEDITERRANEAN FEVER; GENE MUTATION; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; HYBRIDIZATION; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; SCHOOL CHILD; SCREENING TEST; TEL HASHOMER CRITERIA; TURKEY (REPUBLIC); CHILD; GENETICS; HETEROZYGOTE; HOMOZYGOTE; INFANT; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FAMILIAL MEDITERRANEAN FEVER; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MUTATION; TURKEY;

EID: 34347347858     PISSN: 03795284     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Grateau G, Drenth JPH, Delpech M. Hereditary fevers. Current Op in Rheumatol 1999; 11: 75-78.
2. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999; 22: 178-191.
3. Drenth JP, Haagsma CJ, van der Meer JMW. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994; 73: 133-144.
4. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55kDa TNF recepor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97: 133-144.
5. Ben-Chetrit E, Levy M. Does the lack of the P-glycoprotein efflux pump in neutrophils explain the efficacy of colechicine in familial Mediterranean fever and other inflammatory diseases? Med Hypotheses 1998; 51: 377-380.
6. Heller H, Sohar E, Sherf L. Familial Mediterranean fever. AMA Arch Intern Med 1958; 102: 50-57.
7. Janeway TC, Mosenthal HO. An unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism. Trans Ass Am Phys 1908; 23: 504-518.
8. Booth DR, Lachmann HJ, Gillmore JD, Booth SE, Hawkins PN. Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. Q J Med 2001; 94: 527-531.
9. Savas CM, Arslan S. Ailevi akdeniz atesi. Hacettepe Tip Degrisi 1998; 29: 32-39.
10. Ozer FL, Kaplaman E, Zileli S, Familial Mediterranean fever in Turkey. Am J Med 1971; 50: 336-339.
11. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40: 1879-1885.
12. Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, et a]. MEFV-Gene analysisin armenian patients with Familial Mediterranean fever: Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet 1999; 65: 88-97.
13. Yalcinkaya E, Cakar N, Misirlioglu M, Tumer N, Akar N, Tekin M. Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: Evidence for mutation-independent amyloidosis. Rheumatology 2000; 39: 67.
14. French FMF Consortium. A candidate gone for familial Mediterranean fever. Nat Genet 1997; 17: 25-31.
15. Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. In: Fevers an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004; 24: 194-198.
16. Livneh A, Langevitz P, Shinar Y, Zaks N, Kasstner DL, Pras M, Pras E. MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterraneann fever. Amyloid 1999; 6: 1-6.
17. Fidder HH, Chowers Y, Lidar M, Sternberg M, Langevitz P, Livneh A. Crohn disease in patients with familial Mediterranean fever. Medicine (Baltimore) 2002; 81: 411-416.
18. Aksentijevich I, Toraysan Y, Samuels J, Centola M, Pras E, Chae JJ, et al. Mutation and haplotype studies of 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: 949-962.
19. Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, Saatci U, Bakkaloglu A, Ozguc M. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001; 9: 553-555.
20. Akar N, Misirlioglu M, Yalçinkaya F, Akar E, Cakar N, Tumer N, et al. MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever. Hum Mutat 2000; 15: 118-119.
21. Pras E, Langevitz P. Genotype-phenotype correlation in familial Mediterranean fever (a preliminary report). In: Sohar E, Gafni J, Pras M. Familial Mediterranean fever. Tel Aviv: Freund Publishing Hause; 1997. p. 260-264.
22. Dewalle M, Domingo C, Rozenbaum M. Ben-Chetrit E, Cattan D. Berot A, et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet 1998; 6: 95-97.
23. Atagunduz MP, Tuglular S, Kantarci G, Akoglu E, Direskineli H. Association of FMF-related (MEFV) point mutations with secondary and FMF amyloidosis. Nephron Clin Pract 2004; 96: 131-135.
24. Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant? Hum Mutat 2000; 15: 385-386.
25. Gershoni-Baruch R, Kepten I, Shinawi M, Brik R. Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis. Mutation in brief no. 257. Online. Hum Mutat 1999; 14: 91.
26. Dode C, Pecheux C, Cazeneuve C, Cattan D, Dervichian M, Goosens M, et al. Mutations inthe MEFV gene in large series of patients with a clinical diagnosis of familial Mediterranean fever. Am J Med Genet 2000; 92: 241-246.
27. Rawashdeh M, Mejeed HA. Familial Mediterranean fever in Arab children: the high prevalence and gene frequency. Eur J Pediatr 1996; 515: 540-544.
28. Akarsu AN, Saatci U, Ozen S, Bakkaloglu A, Besbas N, Sarfarazi M. Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. J Med Genet 1997; 34: 573-578.
29. Goldfinger SE. Colchicine for familial Mediterranean fever. N Engl Med 1972; 287: 1302.
30. Grateau G, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, et al. Clinical versus genetic diagnosis of familial Mediterranean fever. Q J Med 2000; 95: 223-229.