Investigation of S288y (P.Ser863tyr, C.863 C>A) Mutation in MEFV Gene and its’ Clinics

Abstract

Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disease characterisedby recurrent and self-limited abdominal pain, synovitis and pleuritis. The mutations in MEFVgene are responsible from the disease and its protein product, pyrin or marenostrin, plays ancrucial role in the regulation of the inflammatory reactions. A Turkish family with a total of fourmembers clinically diagnosed as FMF are explored. All exons of MEFV gene(1,2,3,4,5,6,7,8,9,10) were amplified using PCR technic and complete exom sequencing analysisof MEFV gene was done for four individuals. A single base mutation named as S288Y(p.Ser863Tyr, c.863 C>A) was identified in exon 2 of MEFV gene. The proband also carriedM694V and R202Q mutation. Our results indicated that in addition to the proband, her mother(M694V, R202Q) and father (S288Y) have carried the mutation, too. His sister has not anymutation. The proband has fever, family history of FMF, abdominal pain, chest pain, arthritis,erythema. The recurrency of the attack is one of 2 week. This is the second report of thismutation in exon 2 of the MEFV gene from a Turkish family. First report was from South-eastof Turkey but we don’t have any clinical information about that case. As a result; we differentlydescribe our patient’s clinic profile. We thought that this single base mutation may provideimportant knowledge for further studies on FMF pathogenesis

Keywords

• FMF, MEFV Gene, S288Y mutation

MEFV GENİNDE S288Y (P.SER863TYR, C.863 C>A) MUTASYONU VE KLİNİĞİNİN ARAŞTIRILMASI

Abstract

Ailesel Akdeniz Ateşi (FMF) otozomal resesif kalıtılan, kendini sınırlayan ve tekrarlayıcı karınağrısı, sinövit, plevrit ataklarıyla karakterize bir hastalıktır. MEFV genindeki mutasyonlarhastalığa sebep olmakta ve genin ürünü olan pyrin/marenostrin proteini inflamatuarreaksiyonların regülasyonunda görev yapmaktadır. Klinik olarak FMF tanısı konan bir Türkailesinin 4 ferdi incelendi. MEFV geninin tüm ekzonları (1,2,3,4,5,6,7,8,9,10) PCR tekniği ileamplifiye edilip, dört birey için MEFV geninin tüm ekzom dizi analizi yapıldı. MEFV geninin2. Ekzon bölgesinde tek bazlık yeni S288Y (p.Ser863Tyr, c.863 C>A) olarak adlandırılan birmutasyon tanımlandı. Proband aynı zamanda M694V ve R202Q mutasyonlarınıda taşıyordu.Bizim sonuçlarımız probanda ilaveten onun annesinin (M694V,R202Q) ve babasının (S288Y)da mutasyonu taşıdığını gösterdi. Proband’da ateş, aile öyküsü, abdomen ağrısı, göğüs ağrısı,artrit ve eritemi vardı. Atak sıklığı 2 haftada birdi. Vakamız MEFV geninin 2. Ekzonunda bumutasyonun Türkiye’den bildirilen ikinci olgusu özelliğini taşımaktadır. İlk vaka Türkiye’ninGüneydoğusundan rapor edilmiştir ancak bu vaka ile ilgili klinik veri paylaşılmamıştır. Sonuçolarak; ilk vakadan farklı olarak hastalarımızın klinik profillerini tanımladık. Ortayakoyduğumuz bu tek baz değişikliği mutasyonunun FMF patogenezi üzerine yapılacak olançalışmalar için katkı sunabileceğini düşünmekteyiz

Keywords

• FMF,MEFV Geni,S288Y mutasyonu

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