Familial Mediterranean fever with amyloidosis associated with novel exon 2 mutation (S1791) of the MEFV gene

Blood Cells, Molecules, and Diseases

Volumn 31, Issue 3, 2003, Pages 320-323

  Timmann, Christian ^a   Mersinli, Osman ^a   Kuhne, Kathrin ^a   Sievertsen, Juergen ^a   Griebel, Martin A ^b   Dieckerhoff, Jost ^c   Horstmann, Rolf D ^a  

^a BERNHARD NOCHT INSTITUTE FOR TROPICAL MEDICINE   (Germany)

^b Dept of Gastroenterol and Hepatol   (Germany)

^c Private Office   (Germany)

Author keywords

AA amyloidosis; FMF; Granulocyte; Monocyte

Indexed keywords

ADULT; AMYLOIDOSIS; ARTICLE; BLOOD CELL; CELL DIFFERENTIATION; CHILD; CONTROLLED STUDY; CYTOPLASM; DISEASE ASSOCIATION; EXON; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEFV GENE; PRIORITY JOURNAL;

EID: 0242468098     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1079-9796(03)00132-3     Document Type: Article

References (18)

1. Ben-Chetrit E., Levy M. Familial Mediterranean fever. Lancet. 351:1998;659-664.
2. Booth D.R., Gillmore J.D., Lachmann H.J., et al. The genetic basis of autosomal dominant familial Mediterranean fever. Q. J. Med. 93:2000;217-221.
3. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 90:1997;797-807.
4. A candidate gene for familial Mediterranean fever. Nat. Genet. 17:1997;25-31.
5. Mansfield E., Chae J.J., Komarow H.D., Brotz T.M., Frucht D.M., Aksentijevich I., Kastner D.L. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood. 98:2001;851-859.
6. Milledge J., Shaw P.J., Mansour A., Williamson S., Bennetts B., Roscioli T., Curtin J., Christodoulou J. Allogeneic bone marrow transplantation cure for familial Mediterranean fever. Blood. 100:2002;774-777.
7. Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur. J. Hum. Genet. 9:2001;473-483.
8. Shinar Y., Livneh A., Langevitz P., et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J. Rheumatol. 27:2000;1703-1707.
9. Mansour I., Delague V., Cazeneuve C., et al. Familial Mediterranean fever in Lebanon mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. Eur. J. Hum. Genet. 9:2001;51-55.
10. Shinawi M., Brik R., Berant M., et al. Familial Mediterranean fever high gene frequency and heterogeneous disease among an Israeli-Arab population. J. Rheumatol. 27:2000;1492-1495.
11. Yalcinkaya F., Cakar N., Misirlioglu M., et al. Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever evidence for mutation-independent amyloidosis. Rheumatology. 39:2000;67-72.
12. 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. 64:1999;949-962.
13. Bernot A., da Silva C., Petit J.L., Cruaud C., et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF), Hum. Mol. Genet. 7:1998;1317-1325.
14. 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. 15:2000;385-386.
15. Livneh A., Langevitz P., Zemer D., et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 40:1997;1879-1997.
16. Timmann C., Muntau B., Kuhne K., Gelhaus A., Horstmann R.D. Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease. Mutat. Res. 479:2001;235-239.
17. Haff L.A., Smirnov I.P. Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry. Genome Res. 7:1997;378-388.
18. Papin S., Duquesnoy P., Cazeneuve C., et al. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Hum. Mol. Genet. 9:2000;3001-3009.