The distribution of MEFV common mutations among Israeli patients with familial Mediterranean fever

Israel Medical Association Journal

Volumn 5, Issue 8, 2003, Pages 592-594

  Ben Chetrit, Eldad ^a   Abeliovich, Dvorah ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Amyloidosis; Familial Mediterranean fever; MEFV gene; Middle East; Mutations

Indexed keywords

COLCHICINE; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1;

ALLELE; AMYLOIDOSIS; CLINICAL FEATURE; DISEASE SEVERITY; DRUG RESPONSE; EDITORIAL; FAMILIAL MEDITERRANEAN FEVER; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; ISRAEL; JEW;

AMYLOIDOSIS; CHI-SQUARE DISTRIBUTION; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; FAMILIAL MEDITERRANEAN FEVER; GENE FREQUENCY; GENOTYPE; HUMANS; ISRAEL; JEWS; MUTATION; POLYMERASE CHAIN REACTION; PROTEINS;

EID: 0042566226     PISSN: 15651088     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Editorial

References (21)

1. Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998;351:659-64.
2. International FMF Consortion. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797-807.
3. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
4. Bernot A, Da Silva C, Petit J-L, 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.
5. Dewalle M, Domingo C, Rosenbaum M, et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever. Eur J Hum Genet 1998;6:95-7.
6. Shohat M, Magal N, Shohat T, et al. Phenotype-genotype correlation in familial Mediterranean fever: Evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 1999;7:287-92.
7. Kone Paut I, Dubue M, Sportouch J, Minodier P, Garnier JM, Touitou I. Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features. Rheumatology 2000;39:1275.
8. Shinar Y, Livneh A, Langevitz P, et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J Rheumatol 2000;27:1703-7.
9. Ben-Chetrit E, Backenroth R. Amyloidosis induced end stage renal disease in familial Mediterranean fever is highly associated with point mutations in the MEFV gene. Ann Rheum Dis 2000;60:146-9.
10. Cazeneuve C, Sarkisian T, Pecheux C, et al. MEFV-gene analysis in Armenian patients with familial Mediterranean fever: Diagnostic value and unfavorable renal progress of M694V homogenous genotype - Genetic and therapeutic implications. Am J Hum Genet 1999;65:88-97.
11. Yalcinkaya F, Tekin M, Cakar N, Akar E, Tumer N. Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients. Q J Med 2000;93:681-4.
12. Zaks N, Shinar Y, Padeh S, et al. Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever. IMAJ 2003;5:585-8.
13. Ben-Chetrit E, Urieli-Shoval S, Alko S, Abeliovich D, Matzner Y. Molecular diagnosis of FMF: Lessons from a study of 446 unrelated individuals. Clin Exp Rheumatol 2002;20:S25-9.
14. 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;34:573-6.
15. Dode C, Andre M, Bienvenu T, et al. The enlarging clinical, genetic and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002;46:2181-8.
16. Aksentijevich I, Nowak M, Mallah M, et al. De novo CIASI mutations, cytokines activation and evidence for genetic heterogeneity in patients with neonatal onset multisystemic inflammatory disease (NOMID). Arthritis Rheum 2002;46:3340-8.
17. Kogan A, Shinar Y, Lidar M, et al. Common MEFV mutations among Jewish ethnic groups in Israel: High frequency of carrier and phenotype III states and absence of perceptible biological advantage for the carrier state. Am J Med Genet 2001;102:272-6.
18. 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;15:385-6.
19. Pras M, Bronspigel N, Zemer D, Gafni J. Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. John Hopkins Med J 1982;150:22-5.
20. Touitou I, Picot MC, Domingo C, et al. The MICA region determines the first modifier locus in familial Mediterranean fever. Arthritis Rheum 2001;44:163-9.
21. Cazeneuve C, Ajrapetyan H, Papin S, et al. Identification of MEFV-independent modifying genetic fact for familial Mediterranean fever. Am J Hum Genet 2000;67:1136-43.