MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: Analysis of 12 gene mutations

Rheumatology International

Volumn 30, Issue 10, 2010, Pages 1293-1298

  El Garf, Ayman ^a,b   Salah, Samia ^a   Iskander, Iman ^a   Salah, Hala ^a   Amin, Sherif Naseh ^a  

^a CAIRO UNIVERSITY   (Egypt)

^b NONE   (Egypt)

Author keywords

Amyloidosis; Egyptian population; Familial Mediterranean fever; MEFV

Indexed keywords

DNA; MEFV PROTEIN; PROTEIN; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; MARENOSTRIN;

ABDOMINAL PAIN; ADULT; AMYLOIDOSIS; ARTHRITIS; ARTICLE; CONTROLLED STUDY; EGYPT; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HOMOZYGOTE; HUMAN; HYBRIDIZATION; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ADOLESCENT; CHILD; COMORBIDITY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; INFANT; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; PRESCHOOL CHILD;

ADOLESCENT; AGE OF ONSET; AMYLOIDOSIS; CHILD; CHILD, PRESCHOOL; COMORBIDITY; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EGYPT; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE;

EID: 77955549677     PISSN: 01728172     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00296-009-1140-z     Document Type: Article

References (36)

1. A Livneh P Langevitz D Zemer N Zaks S Kees T Lidar, et al. 1997 Criteria for the diagnosis of familial Mediterranean fever Arthritis Rheum 40 1879 1885 10.1002/art.1780401023 1:STN:280:DyaK2svns1Wktg%3D%3D 9336425 (Pubitemid 27452541)
2. K Ritis S Giaglis N Spathari A Micheli D Zonios D Tzoanopoulos, et al. 2004 Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients Ann Rheum Dis 63 438 443 10.1136/ard.2003.009258 1:CAS:528:DC%2BD2cXjs1ahs7s%3D 15020340 (Pubitemid 38453312)
3. FMF French Consortium 1997 A candidate gene for familial Mediterranean fever Nat Genet 17 25 31 10.1038/ng0997-25 (Pubitemid 27377528)
4. FMF International 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 10.1016/S0092-8674(00)80539-5 (Pubitemid 27357970)
5. JP Ting DL Kastner HM Hoffman 2006 Pyrin and hereditary immunological disorders Nat Rev Immunol 6 183 195 10.1038/nri1788 1:CAS:528: DC%2BD28Xhsleltbo%3D 16498449 (Pubitemid 43290988)
6. E Mansfield JJ Chae HD Kamaraw TM Brat DM Frucht I Askentijevich, et al. 2001 The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalises with actin filaments Blood 98 851 859 10.1182/blood.V98.3.851 1:CAS:528:DC%2BD3MXlsFKqsr4%3D 11468188
7. D Ustek CG Ekmekci F Selcukbiricik A Cakiris B Oku B Vural, et al. 2007 Association between reduced levels of MEFV messenger RNA in the peripheral blood leukocytes and acute inflammation Arthritis Rheum 56 345 350 10.1002/art.22320 1:CAS:528:DC%2BD2sXhsFaisL0%3D 17195238 (Pubitemid 46106208)
8. M Shinawi R Brik M Berant L Kasinetz R Gershoni-Baruch 2000 Familial Mediterranean fever: high gene frequency and heterogenous disease among an Israeli-Arab population J Rheumatol 27 1492 1495 1:STN:280: DC%2BD3cvotlGiuw%3D%3D 10852276
9. R Gershoni-Baruch M Shinawi L Kasinetz K Badarna R Brik 2001 Familial Mediterranean fever: prevalence, penetrance and genetic drift Eur J Hum Genet 9 634 637 10.1038/sj.ejhg.5200672 1:STN:280:DC%2BD3MvosFehtA%3D%3D 11528510 (Pubitemid 32776380)
10. C Dode C Pecheux C Cazeneuve D Cattan M Dervichian M Goossens, et al. 2000 Mutations in the MEFV gene in a large series of patients with clinical diagnosis of familial Mediterranean fever Am J Med Genet 92 241 246 10.1002/(SICI)1096-8628(20000605)92:4<241::AID-AJMG3>3.0.CO;2-G 1:STN:280:DC%2BD3czgsVamtQ%3D%3D 10842288 (Pubitemid 30252667)
11. Centola M, Kastner D, International FMF Consortium (1997) Cloning of MEVF: implications for the pathophysiology of familial Mediterranean fever. In: Sohar E, Gafni J, Pras M (eds) Familial Mediterranean fever. Freund, London, pp 252-259
12. F Yalcinkaya N Cakar N Misirllioglu N Tumer N Akar M Tekin, et al. 2000 Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence of mutation-independent amyloidosis Rheumatology 39 67 72 10.1093/rheumatology/39.1.67 1:CAS:528: DC%2BD3cXhs1yisbc%3D 10662876
13. E Yilmaz S Ozen B Balci A Duzava R Topaloglu N Besbas, et al. 2001 Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population Eur J Hum Genet 9 553 555 10.1038/sj.ejhg.5200674 1:CAS:528:DC%2BD3MXmsVOltrs%3D 11464248 (Pubitemid 32750497)
14. L Belmahi A Sefiani J Feingold M Delpech G Grateau C Dode 2006 Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever C R Biol 329 2 71 74 1:CAS:528:DC%2BD28Xos1WjsA%3D%3D 16439335
15. H Mattit M Joma S Al-Cheikh M El-Khateeb M Medlej-Hashim N Salem, et al. 2006 Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation Eur J Med Genet 49 481 486 10.1016/j.ejmg.2006.03.002 16627024 (Pubitemid 46037576)
16. I Kone Paut M Dubuc J Sportouch P Minodier JM Garnier I Touitou 2000 Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features Rheumatology (Oxf) 39 1275 1279 10.1093/rheumatology/39.11.1275 1:STN:280:DC%2BD3M%2FmtlKhsw%3D%3D
17. Y Shinar A Livneh P Langevitz N Zaks I Aksentijevich DE Koziol, et al. 2000 Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever J Rheumatol 27 1703 1:STN:280: DC%2BD3M%2Fitlyltw%3D%3D 10914855
18. A Kogan Y Shinar M Lidar A Revivo P Langevit S Padeh, et al. 2001 Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype II states and absence of a perceptible biological advantage for carrier state Am J Med Genet 102 272 276 10.1002/ajmg.1438 1:STN:280: DC%2BD3MvjslektQ%3D%3D 11484206 (Pubitemid 32730278)
19. F Yalcinkaya R Topaloglu E Yimaz S Emre E Erken on behalf of the Turkish FMF Study Group 2002 Distribution of MEFV mutations and phenotype genotype analysis in Turkish patients with FMF: a national wide study Clin Exp Rheumatol 20 Suppl 26 S90 (abstract)
20. M Medlej-Hashim V Delague E Chouery N Salem M Rawashdeh G Lefranc, et al. 2004 Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects BMC Med Genet 5 1 4 10.1186/1471-2350-5-4 15018633 (Pubitemid 38692986)
21. E Ben Chetrit R Backenroth 2001 Amyloidosis induced end stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene Ann Rheum Dis 60 146 149 10.1136/ard.60.2.146 1:CAS:528:DC%2BD3MXhs1SktrY%3D 11156548 (Pubitemid 32102206)
22. R Gershoni-Baruch R Brik N Zacks M Shinawi M Lidar A Livneh 2003 The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever Arthritis Rheum 48 1149 1155 10.1002/art.10944 12687559 (Pubitemid 36418258)
23. S Akar M Soytruk F Onen M Tunca 2003 Serum amyloid A1 and tumor necrosis factor-alpha alleles in Turkish familial Mediterranean fever patients with and without amyloidosis Amyloid 10 12 16 1:CAS:528:DC%2BD3sXktlKitL0%3D 12762136
24. A Delibas A Oner B Balci G Demircin M Bulbul K Bek, et al. 2005 Genetic risk factors of amyloidogenesis in familial Mediterranean fever Am J Nephrol 25 5 434 440 10.1159/000087824 1:CAS:528:DC%2BD2MXhtVymu77I 16118480 (Pubitemid 41433886)
25. Pras E, Langevitz P, Livneh A et al (1997) Genotype-phenotype correlation in familial Mediterranean fever (a preliminary report). In: Sohar E, Gafni J, Pras M (eds) Familial Mediterranean fever. Freund, London, pp 260-264
26. F Yalcinkaya N Akar M Misirlioglu 1998 Familial Mediterranean fever: amyloidosis and the V725A mutation N Engl J Med 338 993 994 10.1056/ NEJM199804023381414 1:STN:280:DyaK1c7nt12ksQ%3D%3D 9527614 (Pubitemid 28152846)
27. M Dewalle C Domingo M Rozenbaum E Ben-Chetrit D Cattan A Bernot, et al. 1998 Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF) Eur J Hum Genet 6 95 97 10.1038/sj.ejhg.5200170 1:STN:280:DyaK1cvlsVejtw%3D%3D 9781020
28. A Livneh P Langevitz Y Shinar N Zaks DL Kastner M Pras, et al. 1999 MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever Amyloid 6 1 6 1:STN:280:DyaK1M3islymsw%3D%3D 10211405 (Pubitemid 29249929)
29. M Shohat N Magal T Shohat X Chen T Dagan A Mimouni, et al. 1999 Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between M694V and amyloidosis Eur J Hum Genet 7 287 292 10.1038/sj.ejhg.5200303 1:STN:280:DyaK1M3ltVOlsQ%3D%3D 10234504 (Pubitemid 29213734)
30. A Mimouni N Magal N Stoffman T Shohat A Minasian M Krasnov, et al. 2000 Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis Pediatrics 105 5 1150 1151 10.1542/peds.105.5.e70 (abstract)
31. E Ben-Chetrit I Lerer E Malamud C Damingo D Abeliavich 2000 The E148Q mutation in MEFV gene: is it a disease causing mutation or a sequence variant? Hum Mutat 15 285 286 10.1002/(SICI)1098-1004(200004)15:4<385::AID- HUMU22>3.0.CO;2-A
32. DR Booth HJ Lachmann JD Gillmore SE Booth PN Hawkins 2001 Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148 QJM 94 527 531 10.1093/qjmed/94.10.527 1:STN:280:DC%2BD3MrktFChtw%3D%3D 11588211
33. D Tchernitchko M Legendre C Cazeneuve A Delahaye F Neil S Amselen 2003 The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever Hum Mutat 22 239 240 10.1002/humu.9182
34. S Ozen N Besbas A Bakkaloglu E Yilmaz 2002 Pyrin Q148 mutation and familial Mediterranean fever QJM 95 332 333 10.1093/qjmed/95.5.332 1:STN:280:DC%2BD383ktFChsg%3D%3D 11978906
35. R Topaloglu F Ozaltin E Yilmaz S Ozen B Balci N Besbas, et al. 2005 E148Q is a disease causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever Ann Rheum Dis 64 750 752 10.1136/ard.2004.026963 1:CAS:528:DC%2BD2MXksFWru7s%3D 15458961 (Pubitemid 40559303)
36. M Solak H Yildiz R Koken M Erdogan B Eser T Sen, et al. 2008 Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever Genet Test 3 341 344 10.1089/gte.2008.0009