Mutational analysis of the MEFV gene in egyptian patients with familial mediterranean fever

Turkish Journal of Medical Sciences

Volumn 39, Issue 2, 2009, Pages 229-234

  Öztürk, Ayşenur ^a   Elbosky, Ezzat ^a   Elsayed, Solaf M ^b   Alhodhod, Mostafa ^b   Akar, Nejat ^a,c  

^a ANKARA UNIVERSITY   (Turkey)

^b Ain Shams University   (Egypt)

^c Koru Mah   (Turkey)

Author keywords

Egypt; Familial mediterranean fever (FMF); MEFV gene

Indexed keywords

EGYPT; EGYPTIANS; FAMILIAL MEDITERRANEAN FEVER (FMF); GENE MUTATIONS; MEDITERRANEAN BASINS; MEFV GENE; MUTATION SPECTRUM; MUTATIONAL ANALYSIS;

COLCHICINE;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CONTROLLED STUDY; EGYPT; EXON; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MEFV GENE; MUTATIONAL ANALYSIS; ONSET AGE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; TREATMENT RESPONSE;

EID: 65249124619     PISSN: 13000144     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. El-Shanti H, Majeed HA, El-Khateeb M. Familial Mediterranean fever in Arabs. Lancet 2006; 367: 1016-24.
2. Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Eng J Med 1986; 314: 1001-1005.
3. French FMF Consortium. A candidate gene for Familial Mediterranean fever. Nat Genet 1997; 17: 25-31.
4. International FMF Consortium. Ancient missense mutations in a new member of the Roret gene family are likely to cause familial Mediterranean fever. Cell 1997; 19: 797-807.
5. Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Askentijevich I et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001; 98: 851-859.
6. Centola M, Aksentijevich.I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet 1998; 7: 1581-1588.
7. http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php.
8. Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F et al. MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever. Semin Arthritis Rheum 2007; 36: 397-401.
9. Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V et al. Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Med Genet 2006; 49: 481-486.
10. Belmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G et al. Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. C R Biol 2006; 329: 71-74.
11. Majeed HA, El-Khateeb M, El-Shanti H, Rabaiha ZA, Tayeh M, Najib D. The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series. Semin Arthritis Rheum 2005; 34: 813-818.
12. Medlej-Hashim M, Rawashdeh M, Chouery E, Mansour I, Delague V, Lefranc G et al. Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients. Hum Mutat 2000; 15: 384.
13. Akar N, Akar E, Özel D, Tekin M, Ekim M, Yalçinkaya F. A note on mutation analysis in familial Mediterranean fever. Pediatr Nephrol 2003; 18: 196-197.
14. Akar N, Misirlioglu M, Yalcinkaya F, Akar E, Cakar N, Tumer N et al. MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Human Mutat 2000; 15: 118-119.
15. Al-Alami JR, Tayeh MK, Najib DA, Abu Rubaiha ZH, Majeed HA, Al-Khateeb MS et al. Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population. Saudi Med J 2003; 24: 1055-1059.
16. Settin A, El-Baz R, AbdRasool M, El-Khalegy H, Elsayed O, El-Bendary M et al. Clinical and molecular diagnosis of familial Mediterranean fever in Egyptian children. J Gastrointest Liver Dis. 2007; 16: 141-145.
17. Brik R, Shinawi M, Kepten I, Berant M, Gershoni-Baruch R. Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. Pediatrics 1999; 103: e70.
18. Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 2001; 9: 473-483.
19. Touitou I, Touitou I, Magne X, Molinari N, Navarro A, Quellec AL et al. MEFV mutations in Behcet's disease. Hum Mutat 2000; 16: 271-272.
20. Akar N, Ozturk A, Ozel D, Akar E, Ekim M. Is MEFV P706 polymorphism important in familial Mediterranean fever patients? J Nephrol 2006; 19: 119-120.
21. Giaglis S, Papadopoulos V, Kambas K, Doumas M, Tsironidou V, Rafail S, Kartalis G, Speletas M, Ritis K. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet 2007; 71: 458-467.
22. Öztürk A, Ocakar B, Ekim M, Akar N. Is MEFV gene Arg202Gln (605G
23. Pras M. Familial Mediterranean fever: from the clinical syndrome to the cloning of the Pyrin gene. Scand J Rheumatol 1998; 27: 92-97.
24. Yalcinkaya F, Cakar N, Misirhoglu M, Tumer N, Akar N, Tekin M et al. Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation - independent amyloidosis. Rheumatology 2000; 39: 67-72.
25. Mimouni A, Magal N, Stoffman N, Shohat T, Minasian A, Krasnov M et al. Familial Mediterranean Fever: Effect of genotype and ethnicity on inflammatory attacks and amyloidosis. Pediatrics 2000; 105: E70.
26. Mokhtar MM, Abdel-Fattah MM. Consanguinity and advanced maternal age as risk factors for reproductive losses in Alexandria, Egypt. Eur J Epidemiol 200; 17: 559-565.