The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)
The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)
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DOI：
10.1016/j.gene.2015.02.059
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发表时间：
2015-05-10
期刊：
影响因子：
3.5
通讯作者：
Savas, Didem
中科院分区：
文献类型：
--
作者：
Coskun, Salih;Ustyol, Lokman;Savas, Didem
家族性地中海热（FMF）是最常见的遗传性炎症性周期性疾病，以反复发作的发热和腹痛、滑膜炎和胸膜炎为特征。本研究的目的是确定地中海热（MEFV）基因突变的频率和分布在安纳托利亚东部的货车省，并比较他们与其他研究从土耳其的各个地区。因此，我们回顾性评估了1058例疑似FMF的儿科患者的MEFV基因突变。采用桑格测序和多重微测序技术检测MEW基因突变。我们鉴定了37种不同的基因型和16种不同的突变。4种最常见的突变和等位基因频率分别为M694V（36.50%）、E148Q（32.77%）、V726A（14.09%）和M694I（4.41%）。M694V是最常见的突变，与土耳其其他地区的研究相比，M694I的频率更高。此外，我们在一名12岁男孩的MEW基因外显子3中发现了一个新的错义突变（R361T，c.1082G>C），该男孩具有典型的FMF表型。总之，本研究首次在安纳托利亚东部的货车省开展了MEFV基因突变在FMF儿童中的分布评估。(C)2015 Elsevier B.V.版权所有。
Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations in Van province of Eastern Anatolia and to compare them with the other studies from various regions of Turkey. Therefore, we retrospectively evaluated MEFV gene mutations in 1058 pediatric patients with suspected FMF. The MEW gene mutations were investigated using Sanger sequencing and the multiplex minisequencing technique. We identified 37 different genotypes and 16 different mutations. The four most common mutations and allelic frequencies were M694V (36.50%), E148Q (32.77%), V726A (14.09%), and M694I (4.41%). M694V was the most common mutation, and the M694I frequency was found to be higher compared to studies from other regions of Turkey. In addition, we identified a novel missense mutation (R361T, c.1082G>C) in exon 3 of the MEW gene in a 12-year-old boy, who had a typical FMF phenotype. In conclusion, this study evaluated the distribution of MEFV gene mutations in children with FMF as the first study conducted in Van province, Eastern Anatolia. (C) 2015 Elsevier B.V. All rights reserved.