Familial Mediterranean fever gene mutation frequencies and genotype-phenotype correlations in the Aegean region of Turkey

Rheumatology International

Volumn 31, Issue 6, 2011, Pages 779-784

  Ozalkaya, Elif ^a   Mir, Sevgi ^a   Sozeri, Betul ^a   Berdeli, Afig ^a   Mutlubas, Fatma ^a   Cura, Alphan ^a  

^a EGE UNIVERSITY   (Turkey)

Author keywords

Aegean region; Childhood; Familial Mediterranean fever; MEFV gene mutation; Phenotype genotype association

Indexed keywords

ABDOMINAL PAIN; ADOLESCENT; ADULT; AMYLOIDOSIS; ARTHRALGIA; ARTHRITIS; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; ERYSIPELAS; ERYTHEMA; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEVER; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; INFANT; INFLAMMATION; MAJOR CLINICAL STUDY; MALE; MYALGIA; PHENOTYPE; PLEURISY; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; THORAX PAIN; TURKEY (REPUBLIC);

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CYTOSKELETAL PROTEINS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; TURKEY;

EID: 79959296274     PISSN: 01728172     EISSN: 1437160X     Source Type: Journal    
DOI: 10.1007/s00296-010-1383-8     Document Type: Article

References (25)

1. S Padeh Y Berkun 2007 Autoinflammatory fever syndromes Rheum Dis Clin N Am 33 585 623 10.1016/j.rdc.2007.07.009 (Pubitemid 47532353)
2. E Sohar J Gafhi M Pras H Heller 1967 Familial Mediterranean fever. A survey of 470 cases and review of the literature Am J Med 43 227 253 5340644 10.1016/0002-9343(67)90167-2 1:STN:280:DyaF2s3htFektw%3D%3D
3. A Livneh D Zemer P Langevitz A Laor E Sohar M Pras 1994 Colchicine treatment of AA amyloidosis of familial Mediterranean fever: an analysis of factors affecting outcome Arthritis Rheum 37 1804 1811 7986228 10.1002/art.1780371215 1:STN:280:DyaK2M%2FnslGltQ%3D%3D (Pubitemid 24371884)
4. D Zemer M Pras E Sohar M Modan S Cabili J Gafni 1896 Colchicine in the prevention and treatment of amyloidosis of familial Mediterranean fever N Engl J Med 314 100 1005
5. H Heller J Gafni D Michaeli N Shahin E Sohar G Erlich I Karten L Sokoloff 1966 The arthritis of familial Mediterranean fever (FMF) Arthritis Rheum 9 1 17 4143706 10.1002/art.1780090102 1:STN:280:DyaK3c7pslOjsw%3D%3D
6. Consortium TIF 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)
7. Consortium TFF 1997 A candidate gene for familial Mediterranean fever Nat Genet 17 25 31 10.1038/ng0997-25 (Pubitemid 27377528)
8. S Padeh Y Shiner E Pras D Zemer P Langevitz M Pras A Livneh 2003 Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever J Rheumatol 30 185 190 12508410 (Pubitemid 36077792)
9. R Brik M Shinaw I Kepten M Berant R Gershoni-Baruch 1999 Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients Pediatrics 103 e70 10224214 10.1542/peds.103.5.e70 1:STN:280:DyaK1M3ktV2ktA%3D%3D
10. Y Shinar A Livneh P Langevitz N Zaks I Aksentijevich DE Koziol DL Kastner M Pras E Pras 2000 Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever J Rheumatol 27 1703 1707 10914855 1:STN:280:DC%2BD3M%2Fitlyltw%3D%3D (Pubitemid 30462815)
11. PI Kone 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 mucocutaneous features Rheumatology 39 1275 1279 10.1093/rheumatology/39.11.1275
12. M Dewalle C Domingo M Rozenbaum, et al. 1998 Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever Eur J Hum Genet 6 95 97 9781020 10.1038/sj.ejhg.5200170 1:STN:280: DyaK1cvlsVejtw%3D%3D (Pubitemid 28101703)
13. M Tunca S Akar F Onen, et al. 2005 Turkish FMF Study Group. Familial Mediterranean fever in Turkey: results of a nationwide multicenter study Medicine 84 1 11 15643295 10.1097/01.md.0000152370.84628.0c (Pubitemid 40130180)
14. HA Majeed M Rawashded H el-Shanti H Qubain N Khuri-Bulos HM Shahin 1999 Familial Mediterranean fever in children: the expanded clinical profile Q J M 92 309 318 1:STN:280:DC%2BD3c%2FosVSkuw%3D%3D (Pubitemid 29308696)
15. A Gedalia A Adar R Gorodischer 1992 Familial Mediterranean fever in children JRheum suppl 35 1 9 1:STN:280:DyaK3s%2FlvFSgtA%3D%3D
16. R Brik M Shinawi L Kasinetz R Gershoni-Baruch 2001 The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease Arthritis Rheum 44 1416 1419 11407703 10.1002/1529- 0131(200106)44:6<1416::AID-ART236>3.0.CO;2-6 1:STN:280: DC%2BD3MzksVOmsg%3D%3D (Pubitemid 32537542)
17. H Mattit M Joma S Al-Cheikh, 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 16627024 10.1016/j.ejmg.2006.03.002 (Pubitemid 46037576)
18. I Touitou E Ben-Chetrit C Notarnicola, et al. 1998 Familial Mediterranean fever clinical and genetic features in Druzes and in Iraqi Jews: a preliminary study J Rheumatol 25 916 919 9598891 1:STN:280:DyaK1c3lvVygug%3D%3D (Pubitemid 28210555)
19. E Yilmaz S Ozen B Balci, 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 11464248 10.1038/sj.ejhg.5200674 1:CAS:528:DC%2BD3MXmsVOltrs%3D (Pubitemid 32750497)
20. F Yalcinkaya N Cakar M Misiroglu, et al. 2000 Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever and evidence for mutation independent amyloidosis Rheumatology 39 67 10662876 10.1093/rheumatology/39.1.67 1:CAS:528:DC%2BD3cXhs1yisbc%3D
21. C Cazeneuve T Sarkisian C Pecheux, et al. 1999 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 65 88 97 10364520 10.1086/302459 1:CAS:528:DyaK1MXltlOgu7Y%3D (Pubitemid 30470452)
22. M Shohat N Magal T Shohat, et al. 1999 Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met 694Val and amyloidosis Eur J Hum Genet 7 287 292 10234504 10.1038/sj.ejhg.5200303 1:STN:280:DyaK1M3ltVOlsQ%3D%3D (Pubitemid 29213734)
23. M Medlej-Hashim M Rawashdeh E Chouery, et al. 2000 Genetic screening of fourteen mutations in Jourdanian familial Mediterranean fever patients Hum Mutat 15 384 10737992 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0. CO;2-U 1:STN:280:DC%2BD3c3gt1ynsw%3D%3D
24. HB Chaabouni K Mohamed R M'rad, et al. 2007 MEFV mutations in Tunisian patients suffering from familial Mediterranean fever Semin Arthritis Rheum 36 397 401 17276496 10.1016/j.semarthrit.2006.12.004 1:CAS:528:DC%2BD2sXlvV2qs7g%3D (Pubitemid 46776821)
25. G Grateau C Pecheux C Cazeneuve, et al. 2000 Clinical versus genetic diagnosis of familial Mediterranean fever Q J M 93 223 229 1:STN:280: DC%2BD3M%2FhsVyhsw%3D%3D (Pubitemid 30198959)