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Journals / Dicle Tıp Dergisi / 2009 / Cilt: 36 - Sayı: 2

Common MEFV gene mutations in children with FMF in Diyarbakır, Turkey

Diyarbakır yöresi Ailevi Akdeniz Ateşli çocuklarda MEFV gen mutasyon sıklıkları

Osman EVLİYAOĞLU
SALİM BİLİCİ
İLYAS YOLBAŞ
Selvi KELEKÇİ
VELAT ŞEN
Pages
80–84
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In conclusion, in our patients E148Q mutation was found higher than M694V mutation that has been detected commonly in patients with FMF.

📌 3 Key Takeaways

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Objective & Hypothesis:Familial Mediterranean Fever (FMF) is an autosomal recessive disease that clinically characterized by periodic abdominal pain, fever and arthralgia.
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Key Findings & Data:In present study, 12 MEFV mutations [E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H] have been screened.
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Conclusion & Impact:In conclusion, in our patients E148Q mutation was found higher than M694V mutation that has been detected commonly in patients with FMF.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Familial Mediterranean Fever (FMF) is an autosomal recessive disease that clinically characterized by periodic abdominal pain, fever and arthralgia. Wide variety of mutations have been described in MEFV gene which is known to be responsible from FMF. In present study, 12 MEFV mutations [E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H] have been screened. DNA samples were obtained from a total of 332 children, who were clinically suspected as FMF. Mutation analyses of MEFV gene were carried out with reverse hybridization method. In 113 children (mean age 11.5 years), mutations have been detected. In 60 children E148Q (4 homozygous), in 19 M694V (4 homozygous), in 16 P369S (none), and in 13 children V726A (none homozygous) mutations were detected. Among Familial Mediterranean Fever -suspected 332 children 104 fulfilled diagnostic criteria for FMF and detected MEFV gene mutations with decreasing frequency were; E148Q (30.8%), M694V (18.3%), P369S (10.6%), V726A (8.6%), A744S (2.9%), R761H (2.9%), M694I (1.9%), K695R (1.9%) and I692del (1.0%), respectively. No mutation was detected in 15 (14.4%) FMF children while, two different MEFV mutations were detected together in 13 (12.5%) patients and these patients were accepted as a compound heterozygous. In conclusion, in our patients E148Q mutation was found higher than M694V mutation that has been detected commonly in patients with FMF. The difference may result from demographic features or used methods.

Özet

Ailevi Akdeniz Ateşi otozomal resesif bir hastalık olup, periyodik karın ağrısı, ateş ve eklem ağrısı ile karakterizedir. Ailevi Akdeniz Ateşinden sorumlu tutulan MEFV geninde bir çok mutasyon belirlenmiştir. Bu çalışmamızda klinik olarak Ailevi Akdeniz Ateşi şüphesi taşıyan toplam 332 çocuktan DNA örnekleri alındı ve 12 MEFV mutasyonu [E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H] ters hibridizasyon yöntemi ile yapıldı. Toplam 113 çocukta (ortalama yaş: 11.5 yıl) mutasyon tespit edildi. E148Q mutasyonu 60 çocukta (4 tanesi homozigot), M694V mutasyonu (4 tanesi homozigot) 19 çocukta, P369S mutasyonu (homozigot mutasyon yoktu) 16 hastada ve V726A mutasyonu (homozigot mutasyon yoktu) 13 çocukta tespit edildi. Ancak Ailevi Akdeniz Ateşi şüphesi ile mutasyon analizi istenen 332 çocuktan toplam olarak 104’ünde tanı kriterlerine göre hastalığın tanısı klinik olarak doğrulandı. Ailevi Akdeniz Ateşi tanısı alan hastalarda gen mutasyonları sıklık sırasına göre; E148Q (%30.8), M694V (%18.3), P369S (%10.6), V726A (%8.6), A744S (%2.9), R761H (%2.9), M694I (%1.9), K695R (%1.9) ve I692del (%1.0). Ailevi Akdeniz Ateşi tanısı konan hastaların 15’inde (%14.4) hiçbir mutasyon saptanmazken, 13’ünde (%12.5) iki farklı mutasyon aynı anda belirlenerek bileşik heterezigot olarak tanımlandı. Sonuç olarak hastalarımızda E148Q mutasyonuna, normalde en sık görülen M694V mutasyonundan daha sık rastlandı. Bu farklılık demografik yapı veya metot ile ilişkili olabilir.

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Cite This Article

EVLİYAOĞLU, O., BİLİCİ, S., YOLBAŞ, İ., KELEKÇİ, S., ŞEN, V. (2009). Common MEFV gene mutations in children with FMF in Diyarbakır, Turkey. Dicle Tıp Dergisi, Cilt: 36 - Sayı: 2, 80–84. https://ajindex.com/articles/349273

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References (14)

  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: 227-53
  2. Pras M, Bronshpigel N, Zemer D, Gafni J. Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med J 1982;150:22-6
  3. Ozdemir AL, Sokmen C. Familial Mediterranean fever among the Turkish people. Am J Gastroenterol 1969;51:311-16
  4. Barakat MH, Karnick AM, Majeed HWA, El-Sobki NI, Fenech FF. Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs: a study of 175 patients and review of the literature. Q Med 1986;60:837-47
  5. Yuval Y, Hemo-Zisser M, Zemer D, Sohar E, Pras M. Dominant inheritance in two families with familial Mediterranean fever. Am J Med Genet 1995;57:455-7
  6. Pras E, Aksentijevich I, Gruberg L, et al. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 1992;326: 1509-13
  7. 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
  8. Papin S, Cuenin S, Agostini L, et al. The SPYR domain of pyrin, mutated in Familial Mediterranean Fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ 2007;14:1457-66
  9. Livneh A, Langevitz P. Diagnostic and treatment concerns in familial Mediterranean fever. Bailliere's Clin Rheumatol 2000;14:477-98
  10. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997;40:1879-85
  11. Sabbagh AS, Ghasham M, Abdel Khalek R, et al. MEFV gene mutations spectrum among Lebanese patients referred for Familial, Mediterranean Fever work-up: experience of a major tertiary care center. Mol Biol Rep 2008;35:447-51
  12. Pasa S, Altintas A, Devecioglu B, et al. Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features. Amyloid 2008;15:49-53
  13. Yigit S, Bagci H, Ozkaya O, Ozdamar K, Cengiz K, Akpolat T. MEFV mutations in patients with Familial Mediterranean Fever in the Black Sea region of Turkey. J Rheumatol 2008;35:106-13
  14. Gunel-Ozcan A, Sayın DB, Mısırlıoglu ED, Güliter S, Yakaryilmaz F, Ensari C. The spectrum of FMF mutations and genotypes in the referrals to molecular genetic laboratory at Kırıkkale University in Turkey. Mol Biol Rep 2008;11033-008-9240-5 15.