Author/Authors :
eröz, recep düzce üniversitesi - tıp fakültesi - tıbbi genetik anabilim dalı, Turkey , doğan, mustafa düzce üniversitesi - tıp fakültesi - tıbbi genetik anabilim dalı, TÜRKİYE , yüce, hüseyin düzce üniversitesi - tıp fakültesi - tıbbi genetik anabilim dalı, TÜRKİYE , kocabay, kenan düzce üniversitesi - tıp fakültesi - pediatri anabilim dalı, TURKEY , yüksel, ersin düzce üniversitesi - tıp fakültesi - pediatri anabilim dalı, TÜRKİYE
Title Of Article :
A Turkish Family with A89T (p. Ala89Thr, c.265G A) Mutation on The MEFV Gene, Their Clinical Findings and Review of The Literature
Abstract :
Objective: Familial Mediterranean fever (FMF) is the most commonly seen fever syndrome and characterized by recurrent attacks of fever and serosal and/or synovial inflammation and primarily prevalent in Mediterranean populations. The MEFV gene on the short arm of chromosome 16 is responsible for the disease and its’ protein product pyrin or marenostrin is substantially related with the regulation of the inflammatory reactions. Materials and Methods: A Turkish non-consanguineous family with a total of three members clinically diagnosed as FMF are presented accompanied with literature. After the amplification of all exons of MEFV gene from family members’DNA using PCR technic, whole exom sequencing analysis of MEFV gene was done for all members of family. Results: A rare missense mutation named A89T ( p.Ala89Thr, c.265G A) resulting in a mutated Pyrin/Marenostrin protein on exon 1 of MEFV was shown (both proband and her mother). This detected mutation is a rare in exon 1 of the MEFV gene. Conclusions: To our knowledge, this is the first report from Turkish family and second report from world with A89T mutation. We thought that the current manucsript may provide significant knowledge for more accurate understanding of the disease and further studies on FMF pathogenesis.
