Familial mediterranean fever: The potential for misdiagnosis of E148V using the E148Q usual RFLP detection method [1]

Clinical Genetics

Volumn 61, Issue 1, 2002, Pages 71-73

  Medlej Hashim, M ^b   Salem, N ^b   Chouery, E ^b   Rawashdeh, M ^b   Delague, V ^b   Haffar, M ^b   Mansour, I ^b   Naman, R ^b   Lefranc, G ^b   Loiselet, J ^b   Mégarbané, Andre ^a  

^a Saint Joseph University   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALLELE; CONTROLLED STUDY; DIAGNOSTIC ERROR; DNA DETERMINATION; EXON; FAMILIAL MEDITERRANEAN FEVER; GENE FREQUENCY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; LETTER; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

CYTOSKELETAL PROTEINS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE FREQUENCY; HUMANS; MALE; MUTATION, MISSENSE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEINS;

EID: 0036461409     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.10114.x     Document Type: Letter

References (19)

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 French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997: 17: 25-31.
3. 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.
4. Bernot A, da Silva C, Petit JL et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever. Hum Mol Genet 1998: 7 (8): 1317-1325.
5. Booth DR, Gillmore GD, Booth SE, Pepys MB, Hawkins PN. Pyrin/marenostrin mutations in familial Mediterranean fever. Q J Med 1998: 91: 603-606.
6. 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. Rev Mol Med 1998: 77: 268-297.
7. 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 1999: 64: 949-962.
8. Cazeneuve C, Sarkisian T, Pêcheux C et al. MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavourable renal prognosis of the M694V homozygous genotype-Genetic and therapeutic implications. Am J Hum Genet 1999: 65: 88-89.
9. Notarnicola C, Manna R, Rey JM, Touitou I. Y688X, the first nonsense mutation in familial Mediterranean fever (FMF). Hum Mutat 2000: 17 (1): 79.
10. Torosyan T, Aksentijevich I, Sarkisian T et al. Role of complex alleles and gender in susceptibility to Familial Mediterranean fever in the Armenian population. Am J of Hum Genet 2000: 67 (4 supplement 2): 404.
11. Tunca M, Akar S, Booth DR et al. Familial Mediterranean fever in Western Turkey: five year experience in one institution. Abstracts of the familial Mediterranean fever II international conference, 3-7 May 2000, Antalya, Turkey. Clin Exp Rheumatol 2000: 18: D-2.
12. Schaner P, Richards N, Wadhwa A et al. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nat Genet 2001: 27 (3): 318-321.
13. Mansour I, Delague V, Cazeneuve C et al. Familial Mediterranean Fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxies, Greek Catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. Eur J Hum Genet 2001: 9: 51-55.
14. Medlej-Hashim M, Rawashdeh M, Chouery E et al. Genetic screening of fourteen mutations in Jordanian Familial Mediterranean Fever patients. Hum Mutat (Online) 2000: 15 (4): 384.
15. Heller H, Sohar E, Sherf L. Familial Mediterranean Fever. Arch Intern Med 1958: 102: 50-71.
16. Miller SA, Dynes DD, Polesky F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16 (3): 1215.
17. Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?. Hum Mutat (Online) 2000: 15 (4): 385-386.
18. Centola M, Aksentijevich I, Kastner D. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet 1998: 7 (10): 1581-1588.
19. 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 2000: 9 (20): 3001-3009.