MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever

Amyloid

Volumn 6, Issue 1, 1999, Pages 1-6

  Livneh, Avi ^a,b   Langevitz, Pnina ^a,b   Shinar, Yael ^a   Zaks, Nurit ^a,b   Kastner, Daniel L ^c   Pras, Mordechai ^a,b   Pras, Elon ^b,d  

^a HELLER INSTITUTE OF MEDICAL RESEARCH   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

Author keywords

Amyloidosis; Colchicine; FMF; Pyrin

Indexed keywords

AMYLOIDOSIS; ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; FAMILIAL MEDITERRANEAN FEVER; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HOMOZYGOSITY; HUMAN; NEUTROPHIL; PRIORITY JOURNAL;

EID: 0033008274     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.3109/13506129908993281     Document Type: Article

References (26)

1. Kastner DL (1996). Intermittent and periodic arthritic syndrome. In Arthritis and allied Conditions (13th ed.) Williams and Wilkins, pp. 1279-1306 (Baltimore, Maryland)
2. Sonar E, Gafni J, Pras M and Heller H (1967). Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med 43, 227-253
3. Ozdemir AL and Sokmen C (1969). Familial Mediterranean fever among the Turkish people. Am J Gastroenterol 51, 311-316
4. Schwabe AD and Peters RS (1974). Familial Mediterranean fever in Armenians: analysis of 100 cases. Medicine (Baltimore) 53, 453-462
5. Barakat MH, Karnik AM, Majeed, HWA, el-Sobki NI and Fenech FF (1986). Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs. A study of 175 patients and review of the literature. Q J Med 60, 837-847
6. Rogers DB, Shohat M, Petersen GM, Bickel J, Congleton J, Schwabe AD and Rotter JI (1989). Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. Am J Hum Genet 34, 168-172
7. The International FMF Consortium (1997). Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90, 797-807
8. The French Consortium (1997). A candidate gene for familial Mediterranean fever. Nature Genet 17, 25-31
9. Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dode C, Pecheux C, Nedelec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J and Touitou I (1998). Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 7, 1317-25
10. Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R and Kastner DL (1998). Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (baltimore) 77, 268-297
11. Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H and Kastner DL: Mutation and haplotype studies in 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 (in press)
12. Booth DR, Gillmore JD, Booth SE, Pepys MB and Hawkins PN (1998). Pyrin/marenostrin mutations in familial Mediterranean fever, Q J Med 91, 603-606
13. Heller H, Sohar E, Gafni J and Heller J (1961). Amyloidosis in familial Mediterranean fever. An independent genetically determined character. Arch Int Med 107, 539-550
14. Pras M, Bronshpigel N, Zemer D and Gafni J (1982). Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. John Hopkins Med J 150, 22-26
15. Armenian HK (1982). Genetic and environmental factors in the aetiology of familial paroxysmal polyserositis. An analysis of 150 cases from Lebanon. Trop Geogr Med 34, 183-187
16. Said R, Hamzeh Y, Said S, Tarawneh M and al-Khateeb M (1992). Spectrum of renal involvement in familial Mediterranean fever. kidney Int 41, 414-419
17. Wahib AA, el-Naggar MK and Montasser MF (1984). Familial Mediterranean fever in Saudi Arabia. J Egypt Med Assoc 67(suppl 3), 71-76
18. Zemer D, Revach M, Pras M, Modan B, Schor S and Sohar E (1974). A controlled trial of colchicine in preventing attacks of familial Mediterranean fever.N Engl J Med 291, 932-934
19. Zemer D, Pras M, Sohar E, Modan M, Cabili C and Gafni J (1986). Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Eng J Med 291, 932-934
20. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S and Pras M (1997). Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40, 1879-1885
21. Pras E, Aksentijevich I, Gruberg L, Balow JE Jr, Prozen L, Dean M, Steinberg AD, Pras M and Kastner DL (1992). Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 326, 1509-1513
22. Yalcinkaya F, Akar N and Misirlioglu M (1998). Familial Mediterranean fever-amyloidosis and the Val726Ala mutation. N Engl J Med 338, 993
23. Aivasian AA, Savgorodniaia AM, Abramiam MK, Pashinian CA, Bagdassarian GB, Guyumjian IO and Ovsepian La (1977). Immunogenesis of periodic disease. Klin Med (Mosk) 55, 41-97
24. Kluve-Beckerman B, Naylor SL, Marshall A, Gadner JC, Shows TB and Benson MD (1986). Localization of human SAA gene(s) to chromosome 11 and detection of DNA polymorphisms. Biochem Biophys Res Comm 137, 1196-1204
25. Alzheimer's Disease Collaborative Group (1995). The Structure of the presenilin 1 (S182) gene and identification of six noval mutations in early onset AD families. Nature Genet 11, 219-222
26. Wisniewski T and Frangione B (1992). Apolipoprotein E: a pathological chaprone protein in patients with cerebral and systemic amyloid. Neurosci Lett 135, 235-238