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

American Journal of Human Genetics

Volumn 64, Issue 4, 1999, Pages 949-962

  Aksentijevich, Ivona ^a,f   Torosyan, Yelizaveta ^a   Samuels, Jonathan ^a   Centola, Michael ^a   Pras, Elon ^c   Chae, Jae Jin ^a   Oddoux, Carole ^b   Wood, Geryl ^a   Azzaro, Maria Pia ^e   Palumbo, Giuseppe ^e   Giustolisi, Rosario ^e   Pras, Mordechai ^d   Ostrer, Harry ^b   Kastner, Daniel L ^a  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^c SHEBA MEDICAL CENTER   (Israel)

^d HELLER INSTITUTE OF MEDICAL RESEARCH   (Israel)

^e UNIVERSITY OF CATANIA   (Italy)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; FAMILIAL MEDITERRANEAN FEVER; GENE MUTATION; GENETIC PREDISPOSITION; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; JEW; MAJOR CLINICAL STUDY; PENETRANCE; PRIORITY JOURNAL;

EID: 18244429610     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302327     Document Type: Article

References (30)

1. Akarsu AN, Saatci U, Ozen S, Bakkaloglu A, Besbas N, Sarfarazi M (1997) Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. J Med Genet 34: 573-578
2. Balow JE Jr, Shelton DA, Orsborn A, Mangelsdorf M, Aksentijevich I, Blake T, Sood R, et al (1997) A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups. Genomics 44:280-291
3. Bernot A, da Silva C, Petit J-L, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, et al (1998) Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 7:1317-1325
4. Booth DR, Gillmore JD, Booth SE, Pepys MB, Hawkins PN (1998) Pyrin/marenostrin mutations in familial Mediterranean fever. QJM 91:603-606
5. Breda L, Magri M, Morgese G, Chiarelli F (1998) Familial Mediterranean fever in two Italian brothers. Panminerva Med 40:157-160
6. Brenner-Ullman A, Melzer-Ofir H, Daniels M, Shohat M (1994) Possible protection against asthma in heterozygotes for familial Mediterranean fever. Am J Med Genet 53: 172-175
7. Centola M, Aksentijevich I, Kastner DL (1998) The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet 7:1581-1588
8. Daniels M, Shohat T, Brenner-Ullman A, Shohat M (1995) Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. Am J Med Genet 55:311-314
9. French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17:25-31
10. Gentiloni N, Gabbrielli N, Caradonna P, Schiavino D, Anti M, David M, Segni G, et al (1992) Familial Mediterranean fever and electroencephalographic changes: a clinical case. Minerva Med 83:307-310
11. Goodman RM (1979) Genetic disorders among the Jewish people. Johns Hopkins University Press, Baltimore, pp 1-26
12. 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
13. Janeway TC, Mosenthal HO (1908) An unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism. Trans Assoc Am Phys 23: 504-518
14. Kastner DL (1998) Familial Mediterranean fever: the genetics of inflammation. Hosp Pract 33:131-158
15. Kronn D, Jansen V, Ostrer H (1998) Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population. Arch Intern Med 158: 777-781
16. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, et al (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879-1885
17. Marinone C, Bisbocci D, Pellacani A, Chiandussi I. (1992) Familial Mediterranean fever: a report of 2 cases of Italian origin. Ann Ital Med Int 7:114-117
18. McDermott MF, Ogunkolade BW, McDermott EM, Jones LC, Wan Y, Quane KA, McCarthy J, et al (1998) Linkage of familial Hibernian fever to chromosome 12p13. Am J Hum Genet 62:1446-1451
19. Mulley J, Saar K, Hewitt G, Rüschendorf F, Phillips H, Colley A, Sillence D, et al (1998) Gene localization for an aurosomal dominant familial periodic fever to 12p13. Am J Hum Genet 62:884-889
20. Passiu G, Perpignano G, La Nasa G, Carcassi U (1984) Familial Mediterranean fever: description of a case observed by us. Minerva Medica 75:1147-1152
21. Pras M, Bronshpigel N, Zemer D, Gafni J (1982) Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med J 150: 22-26
22. Reich CB, Franklin EC (1970) Familial Mediterranean fever in an Italian family. Arch Intern Med 125:337-340
23. Rogers DB, Shohat M, Petersen GM, Bickal J, Congleton J, Schwabe AD, Rotter JI (1989) Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. Am J Med Genet 34:168-172
24. Rosenstein ED, Kramer N ( 1994) Familial Mediterranean fever in an individual of Maltese extraction: history is destiny. Clin Exp Rheumatol 12:96
25. Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, 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 77:268-297
26. Secchi GC, Negri E, Monti MA (1981) Periodic disease of twenty-five years' duration in an Italian subject: efficacy of long-term colchicine prophylaxis. Panminerva Med 23: 249-252
27. Siegal S (1964) Familial paroxysmal polyserositis: analysis of fifty cases. Am J Med 36:893-918
28. Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J. Med 43:227-253
29. Sohar E, Pras M, Heller J, Heller H ( 1961 ) Genetics of familial Mediterranean fever (FMF). Arch Intern Med 107:529-538
30. Yuval Y, Hemo-Zisser M, Zemer D, Sohar E, Pras M (1995) Dominant inheritance in two families with familial Mediterranean fever (FMF). Am J Med Genet 57:455-457