Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever

Journal of Rheumatology

Volumn 27, Issue 7, 2000, Pages 1703-1707

  Shinar, Yael ^b   Livneh, Avi ^b   Langevitz, Pnina ^b   Zaks, Nurit ^b   Aksentijevich, Ivona ^b   Koziol, Deloris E ^b   Kastner, Daniel L ^b   Pras, Mordechai ^b   Pras, Elon ^a  

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

^b NONE

Author keywords

Familial Mediterranean fever; Genotype; Phenotype

Indexed keywords

COLCHICINE;

ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; ERYSIPELAS; ERYTHEMA; FAMILIAL MEDITERRANEAN FEVER; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

AGE OF ONSET; COLCHICINE; DISEASE PROGRESSION; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENOTYPE; HUMANS; MALE; PHENOTYPE; SEX FACTORS;

EID: 0033910042     PISSN: 0315162X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Kastner DL. Intermittent and periodic arthritic syndrome. In: Arthritis and allied conditions. 13th ed. Baltimore: Williams & Wilkins; 1996:1279-306.
2. Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967;43:227-53.
3. Zemer D, Revach M, Pras M, et al. A controlled trial of colchicine in preventing attacks of familial Mediterranean fever. N Engl J Med 1974;291:932-4.
4. Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med 1986;314:1001-5.
5. Pras M, Bronshpigel N, Zemer D, Gafni J. Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med J 1982;150:22-6.
6. Rogers D, Shohat M, Peterson GM, et al. Familial Mediterranean fever in Armenians. Am J Hum Genet 1989;34:168-72.
7. Barakat MH, Karnick AM, Majeed HWA, El-Sobki NI, Fenech FF. Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs: A study of 175 patients and review of the literature. Q J Med 1986;60:837-47.
8. Ozdemir AL, Sokmen C. Familial Mediterranean fever among the Turkish people. Am J Gastroenterol 1969;51:311-6.
9. Yuval Y, Hemo-Zisser M, Zemer D, Sohar E, Pras M. Dominant inheritance in two families with familial Mediterranean fever. Am J Med Genet 1995;57:455-7.
10. Pras E, Aksentijevich I, Gruberg L, et al. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 1992;326:1509-13.
11. 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.
12. The French Consortium. A candidate gene for familial Mediterranean fever. Nature Genet 1997;17:25-31.
13. Bernot A, da Silva C, Petit JL, et al. Nonfounder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever. Hum Mol Genet 1998;7:1317-25.
14. Samuels J, Aksentijevich I, Torosyan Y, et al. 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) 1998;77:268-97.
15. Aksentijevich I, Torosyan Y, Samuels J, et al. 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 1999;64:949-62.
16. Booth DR, Gillmore JD, Booth SE, Pepys MB, Hawkins PN. Pyrin/marenostrin mutations in familial Mediterranean fever. Q J Med 1998;91:603-6.
17. Aivasian AA, Savgorodniaia AM, Abramiam MK. Immunogenesis of periodic disease. Klin Med (Mosk) 1977;55:41-97.
18. Rogers D, Shohat M, Peterson GM, et al. Familial Mediterranean fever in Armenians. Am J Hum Genet 1989;34:168-72.
19. Schwabe AD, Peters RS. Familial Mediterranean fever in Armenians. Analysis of 100 cases. Medicine 1974;53:453-62.
20. Pras E, Livneh A, Bellow JE, et al. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet 1998;75:216-9.
21. Livneh A, Langevitz P, Shinar Y, et al. MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid 1999;6:1-6.
22. Pras M, Kastner DL. Familial Mediterranean fever. In: Klippel JH, Dieppe PA, editors. Rheumatology. 2nd ed. London: Mosby; 1997;23.1-23.4.
23. Dewalle M, Domingo C, Rozenblum M, et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever. Eur J Hum Genet 1998;6:95-7.
24. Cazeneuve C, Sarkisian T, Pecheux 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;65:77-88.
25. Shohat M, Magal N, Shohat T, et al. Phenotype-genotype correlations in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 1999;3:287-92.
26. Yalcinkaya F, Akar N, Misirlioglu M. Familial Mediterranean fever -amyloidosis and the Val726Ala mutation. N Engl J Med 1998;338:993-4.