Standardized Testing for Mutations in Familial Mediterranean Fever

Clinical Chemistry

Volumn 49, Issue 11, 2003, Pages 1781-1782

  Touitou, Isabelle ^a  

^a HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ASSAY; DIAGNOSTIC TEST; EDITORIAL; FAMILIAL MEDITERRANEAN FEVER; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE;

CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; FAMILIAL MEDITERRANEAN FEVER; HUMANS; MUTATION; NUCLEIC ACID HYBRIDIZATION; PROTEINS;

EID: 0242362637     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2003.025791     Document Type: Editorial

References (16)

1. Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 2001;9:473-83.
2. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
3. 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.
4. Aksentijevich I, Torosyan 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;64:949-62.
5. Ayme S. [Orphanet, an information site on rare diseases]. Soins 2003: 46-7.
6. Oberkanins C, Weinhäusel A, Kriegshäuser G, Moritz A, Kury F, Haas OA. Genetic testing for familial Mediterranean fever in Austria by means of reverse-hybridization teststrips. Clin Chem 2003;49:1948-50.
7. Tchernitchko D, Legendre M, Delahaye A, Cazeneuve C, Niel F, Goossens M, et al. Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations. Clin Chem 2003;49:1942-5.
8. Touitou I, Ben-Chetrit E, Notarnicola C, Domingo C, Dewalle M, Dross C, et al. Familial Mediterranean fever clinical and genetic features in Druzes and in Iraqi Jews: a preliminary study. J Rheumatol 1998;25:916-9.
9. Deltas CC, Mean R, Rossou E, Costi C, Koupepidou P, Hadjiyanni I, et al. Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus. Genet Test 2002;6:15-21.
10. Bernot A, Heilig R, Clepet C, Smaoui N, Da Silva C, Petit JL, et al. A transcriptional map of the FMF region. Genomics 1998;50:147-60.
11. Sarrauste de Menthiere C, Terriere S, Pugnere D, Ruiz M, Demaille J, Touitou I. INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 2003;31:282-5.
12. Dequeker E, Cassiman JJ. Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. Eur J Hum Genet 1998;6:165-75.
13. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97:133-44.
14. 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;22:178-81.
15. 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.
16. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001;29:301-5.