Clinical disease among patients heterozygous for familial Mediterranean fever

Arthritis and Rheumatism

Volumn 60, Issue 6, 2009, Pages 1862-1866

  Marek Yagel, Dina ^a,c   Berkun, Yackov ^b,c   Padeh, Shai ^b,c   Abu, Almogit ^a,c   Reznik Wolf, Haike ^a,c   Livneh, Avi ^b,c   Pras, Mordechai ^b,c   Pras, Elon ^a,c  

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

^b SHEBA MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COLCHICINE;

ADOLESCENT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; FAMILIAL DISEASE; FAMILIAL MEDITERRANEAN FEVER; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HETEROZYGOSITY; HUMAN; INFANT; MEFV GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELATIVE; SCHOOL CHILD; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOMATOLOGY; VERTICAL TRANSMISSION;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DNA; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENETIC SCREENING; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 66449090908     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.24570     Document Type: Article

References (15)

1. 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;43:227-253
2. 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.
3. Federici L, Rittore-Domingo C, Kone-Paut I, Jorgensen C, Rodiere M, Le Quellec A, et al. A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis 2006;65:1427-1432
4. Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever. J Rheumatol 2003;30:185-190
5. Tchernitchko D, Moutereau S, Legendre M, Delahaye A, Cazeneuve C, Lacombe C, et al. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in western European Caucasian patients. Arthritis Rheum 2005;52:3603-3605
6. Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 1998;7:1317-1325
7. Lachmann HJ, Sengul B, Yavuzsen TU, Booth DR, Booth SE, Bybee A, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 2006;45:746-750
8. Holmes AH, Booth DR, Hawkins PN. Familial Mediterranean fever gene. N Engl J Med 1998;338:992-993
9. Livneh A, Aksentijevich I, Langevitz P, Torosyan Y, G-Shoham N, Shinar Y, et al. A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD). Eur J Hum Genet 1998;9:191-196
10. Booth DR, Gillmore JD, Lachmann HJ, Booth SE, Bybee A, Soyturk M, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM 2000;93:217-221
11. Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, et al. A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? Am J Med Genet A 2004;124A:67-73.
12. Pras M, Kastner DL. Familial Mediterranean fever. In: Klippel JH, Dieppe PA, editors. Rheumatology. 2nd ed. London: Mosby; 1997. p. 23.1-23.4.
13. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
14. Van Gijn ME, Soler S, de la Chapelle C, Mulder M, Ritorre C, Kriek M, et al. Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres. Eur J Hum Genet 2008. E-pub ahead of print.
15. Shinar Y, Livneh A, Langevitz P, Zaks N, Aksentijevich I, Koziol DE, et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J Rheumatol 2000;27:1703-1707