Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

Annals of the Rheumatic Diseases

Volumn 74, Issue 4, 2015, Pages 635-641

  Giancane, Gabriella ^a   Haar, Nienke M Ter ^a   Wulffraat, Nico ^a   Vastert, Sebastiaan J ^a   Barron, Karyl ^b   Hentgen, Veronique ^c   Kallinich, Tilmann ^d   Ozdogan, Huri ^e   Anton, Jordi ^f   Brogan, Paul ^g   Cantarini, Luca ^h   Frenkel, Joost ^a   Galeotti, Caroline ⁱ   Gattorno, Marco ^j   Grateau, Gilles ^k   Hofer, Michael ^l   Kone Paut, Isabelle ^m   Kuemmerle Deschner, Jasmin ⁿ   Lachmann, Helen J ^o   Simon, Anna ^p   Demirkaya, Erkan ^q   Feldman, Brian ^r   Uziel, Yosef ^s   Ozen, Seza ^t   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c CENTRE HOSPITALIER DE VERSAILLES   (France)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e Florance Nightingale Hastanesi   (Turkey)

^f UNIVERSITY OF BARCELONA   (Spain)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h UNIVERSITY HOSPITAL OF SIENA   (Italy)

ⁱ BICÊTRE HOSPITAL   (France)

^j G GASLINI INSTITUTE   (Italy)

^k HÔPITAL TENON   (France)

^l UNIVERSITY OF LAUSANNE   (Switzerland)

^m UNIVERSITÉ PARIS SACLAY   (France)

ⁿ UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^o ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^p RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^q GULHANE SCHOOL OF MEDICINE   (Turkey)

^r HOSPITAL FOR SICK CHILDREN   (Canada)

^s TEL AVIV UNIVERSITY   (Israel)

^t HACETTEPE UNIVERSITY   (Turkey)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID A PROTEIN; CYTOSKELETON PROTEIN; MARENOSTRIN;

AMYLOIDOSIS; ARTICLE; CLINICAL FEATURE; CONSENSUS DEVELOPMENT; CORRELATIONAL STUDY; DIAGNOSTIC VALUE; EVIDENCE BASED MEDICINE; FAMILIAL MEDITERRANEAN FEVER; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTERMETHOD COMPARISON; MEDICAL SPECIALIST; MEFV GENE; ONSET AGE; PRIORITY JOURNAL; RISK FACTOR; SCORING SYSTEM; SYSTEMATIC REVIEW; VALIDATION PROCESS; CHILD; GENETICS; PRACTICE GUIDELINE; YOUNG ADULT;

CHILD; CYTOSKELETAL PROTEINS; EVIDENCE-BASED MEDICINE; FAMILIAL MEDITERRANEAN FEVER; HUMANS; PRACTICE GUIDELINES AS TOPIC; YOUNG ADULT;

EID: 84925590317     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2014-206844     Document Type: Article

References (46)

1. Aksentijevich I, Kastner DL. Genetics of monogenic autoinflammatory diseases: Past successes, future challenges. Nat Rev Rheumatol 2011; 7: 469-78.
2. Ozen S, Bilginer Y. A clinical guide to autoinflammatory diseases: Familial Mediterranean Fever and next-of-kin. Nat Rev Rheumatol 2014; 10: 135-47.
3. Ben-Chetrit E, Touitou I. Familial Mediterranean Fever in the world. Arthritis Rheum 2009; 61: 1447-53.
4. Hentgen V, Grateau G, Kone-Paut I, et al. Evidence-based recommendations for the practical management of Familial Mediterranean Fever. Semin Arthritis Rheum 2013; 43: 387-91.
5. Padeh S, Livneh A, Pras E, et al. Familial Mediterranean Fever in the first two years of life: A unique phenotype of disease in evolution. J Pediatr 2010; 156: 985-9.
6. Deng Z, Sood R, Balow JE, et al. Ancient missense mutations in a new member of the RoRet gene family are likely to cause. Cell 1997; 90: 797-807.
7. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17: 25-31.
8. Stoffels M, Szperl A, Simon A, et al. MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease. Ann Rheum Dis 2014; 73: 455-61.
9. Sarrauste de Menthiere C. INFEVERS: The Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 2003; 31: 282-5.
10. Federici S, Calcagno G, Finetti M, et al. Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population. Ann Rheum Dis 2012; 71: 1961-5.
11. Dougados M, Betteridge N, Burmester GR, et al. EULAR standardised operating procedures for the elaboration, evaluation, dissemination, and implementation of recommendations endorsed by the EULAR standing committees. Ann Rheum Dis 2004; 63: 1172-6.
12. Whiting P, Dinnes J, Kleijnen J. Methods for assessing the quality of diagnostic accuracy studies. Health Technol Assess (Rockv) 2004; 8: 1-234.
13. Zhang W, Doherty M, Pascual E, et al. EULAR evidence based recommendations for gout. Part I: Diagnosis. Report of a task force of the Standing Committee for International Clinical Studies Including Therapeutics (ESCISIT). Ann Rheum Dis 2006; 65: 1301-11.
14. Delbecq AL. A group process model for problem identification and program planning. J Appl Behav Sci 1971; 7: 466-92.
15. Ozturk C, Halicioglu O, Coker I, et al. Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey. Clin Rheumatol 2012; 31: 493-501.
16. Grateau G, Pêcheux C, Cazeneuve C, et al. Clinical versus genetic diagnosis of familial Mediterranean fever. QJM 2000; 93: 223-9.
17. Ozen S, Bakkaloglu A, Yilmaz E, et al. Mutations in the gene for familial Mediterranean fever: Do they predispose to inflammation? J Rheumatol 2003; 30: 2014-18.
18. Migita K, Ida H, Moriuchi H, et al. Clinical relevance of MEFV gene mutations in Japanese. J Rheumatol 2012; 39: 875-7.
19. Mattit H, Joma M, Al-Cheikh S, et al. Familial Mediterranean fever in the Syrian population: Gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Med Genet 2006; 49: 481-6.
20. Giaglis S, Papadopoulos V, Kambas K, et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet 2007; 71: 458-67.
21. Ben-Chetrit E, Lerer I, Malamud E, et al. The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant? Hum Mutat 2000; 15: 385-6.
22. Tchernitchko D, Legendre M, Cazeneuve C, et al. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat 2003; 22: 339-40.
23. Ben-Chetrit E, Urieli-Shoval S, Calko S, et al. Molecular diagnosis of FMF: Lessons from a study of 446 unrelated individuals. Clin Exp Rheumatol 2002; 20: S25-9.
24. Dewalle M, Domingo C, Rozenbaum M, et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet 1998; 6: 95-7.
25. Camus D, Shinar Y, Aamar S, et al. "Silent" carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. Clin Genet 2012; 82: 288-91.
26. 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.
27. Akpolat T, Özkaya O, Özen S. Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. Gene 2012; 492: 285-9.
28. Touitou I, Sarkisian T, Medlej-Hashim M, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum 2007; 56: 1706-12.
29. Settin A, El-Baz R, Abd Rasool M, et al. Clinical and molecular diagnosis of Familial Mediterranean Fever in Egyptian children. J Gastrointestin Liver Dis 2007; 16: 141-5.
30. Samli H, Dogru O, Bukulmez A, et al. Mediterranean fever gene mutations in a cohort. Saudi Med J 2006; 90: 1822-6.
31. 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.
32. Sohar E, Gafni J, Pras M, et al. Familial Mediterranean Fever. A survey of 470 cases and review of the literature. Am J Med 1967; 43: 227-53.
33. Sohar Ezra, Gafni Joseph PM. Tel Hashomer criteria for the diagnosis of FMF. First International Conference on FMF. London and Tel Aviv: Freund Publishing House, 1997: 207.
34. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40: 1879-85.
35. Yalçinkaya F, Ozen S, Ozçakar ZB, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) 2009; 48: 395-8.
36. Kondi A, Hentgen V, Piram M, et al. Validation of the new paediatric criteria for the diagnosis of familial Mediterranean fever: Data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders. Rheumatology (Oxford) 2010; 49: 2200-3.
37. 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; 75: 216-19.
38. Aksentijevich I, Torosyan Y, Samuels J, 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: 949-62.
39. Ensembl. http://www.ensembl.org/Homo-sapiens/Variation/Population?db=core; g=ENSG00000103313; r=16: 3242028-3256627; v=rs3743930; vdb=variation; vf=2796670
40. Gershoni-Baruch R, Brik R, Shinawi M, et al. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet 2002; 10: 145-9.
41. Cazeneuve C, Sarkisian T, Pêcheux C, et al. MEFV-Gene analysis in 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.
42. Gershoni-Baruch R, Shinawi M, Leah K, et al. Familial Mediterranean fever: Prevalence, penetrance and genetic drift. Eur J Hum Genet 2001; 9: 634-7.
43. Tunca M, Akar S, Onen F, et al. Familial Mediterranean Fever (FMF) in Turkey: Results of a nationwide multicenter study. Medicine (Baltimore) 2005; 84: 1-11.
44. Schwabe AD, Peters RS. Familial Mediterranean fever in Armenians: Analysis of 100 cases. Medicine (Baltimore) 1974; 53: 453-62.
45. Ozen S, Demirkaya E, Amaryan G, et al. Results from a multicentre international registry of familial Mediterranean fever: Impact of environment on the expression of a monogenic disease in children. Ann Rheum Dis 2014; 73: 662-7.
46. Shinar Y, Obici L, Aksentijevich I, et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis 2012; 71: 1599-605.