A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients

作者：Demirkaya Erkan^*; Tunca Yusuf; Gok Faysal; Ozen Seza; Gul Davut

来源：Clinical Rheumatology, 2008, 27(6): 729-732.

DOI：10.1007/s10067-007-0780-1

• familial Mediterranean fever
• MEFV
• rare mutations
• R761H
• Turkish patients

Familial Mediterranean fever (FMF) is an autosomal-recessive disease. It is characterized by recurring fever, abdominal pain, and serositis. The Mediterranean fever (MEFV) gene is localized on 16p13.3 and more than 35 mutations have been described to date. There are some differences in the gene mutations of FMF in the various ethnic groups. The aim of this study is to determine the frequency of the mutations which has been reported comparatively rare, to define the most effective mutation set, and to select the most suitable DNA analysis system for Turkish FMF patients. Mutations in 330 Turkish FMF patients with typical phenotypes from various regions of Turkey were evaluated for the research purposes. These patients were analyzed for six MEFV gene mutations by the NanoChip (R) Molecular Genetics Workstation. The most frequent mutation was M694V, identified in 50.00% of the alleles examined; M680I followed with 14.10% and V726A-9.70%. Consequently, we determined that R761H (n=23; 3.48%) was the most frequent rare mutations in Turkish FMF patients. Frequency of the rare mutations were R761H (3.48%), E148Q (1.36%), and M694I (1.21%). All of these mutations were in the compound heterozygote state. Our study showed that R761H mutations were higher than it has been reported in literature until now and were mainly associated with M694V. We suggest that mutation R761H should be included in the mutation scanning analysis researches or considered if the patient has M694V/? mutation especially in Turkish FMF patients. Larger serial studies need to be done to investigate the rate and coexistence of these mutations.

• 出版日期2008-6
• 单位中国人民解放军军事医学科学院