Frequency of mutations in Mediterranean fever gene, with gender and genotype–phenotype correlations in a Turkish population

被引：0

作者：

COŞKU S.A.L.I.H. ^{[1
,5
]}

KURTGÖZ S.E.R.K.A.N. ^{[2
,5
]}

KESKIN E.C.E. ^{[3
,5
]}

SÖNMEZ F.E.R.A.H. ^{[4
]}

BOZKURT G.Ö.K.A.Y. ^{[5
]}

机构：

[1] Medical,Department of Medical Genetics, Dicle University, Diyarbakır

[2] Medical, Department of Medical Genetics, Süleyman Demirel University, Isparta

[3] Department of Medical Genetics, Süleymaniye Education and Training Hospital, Istanbul

[4] Medical, Department of Pediatrics, Adnan Menderes University, Aydın

[5] Department of Medical Genetics, Adnan Menderes University, Aydın

来源：

Journal of Genetics | 2015年 / 94卷 / 4期

关键词：

allelic frequencies; familial Mediterranean fever; genotype–phenotype correlation; MEFV gene; p.R761H;

D O I：

10.1007/s12041-015-0568-z

中图分类号：

学科分类号：

摘要：

Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever, abdominal pain, synovitis and pleurisy. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations and to investigate the clinical characteristics and genotype–phenotype correlation in patients with FMF in Aydın, a province in western Anatolia, Turkey. Therefore, we retrospectively analysed MEFVgene mutations in 383 patients with suspected FMF and the clinical features of 327 among them. The MEFV gene mutations were investigated using the reverse dot-blot hybridization technique. We detected 26 different genotypes and 11 different mutations. The most common mutations in our cohort were p.M694V (41.15%), p.E148Q (20.35%), p.M680I(G/C) (12.39%) and p.R761H (9.73%). Abdominal pain (86.2%), fever (80.7%), arthralgia (57.2%), vomiting (36.1%), arthritis (34.6%), fatigue (31.5%), anorexia (22.9%) and chest pain (19.0%) were the most prevalent clinical features in our patients. This is the first study from Aydın in which the distribution of MEFVgene mutations and clinical features were evaluated in patients with FMF. We found that the most common mutation was p.M694V in our region, while the frequency of the p.R761H mutation was higher compared to other regions of Turkey with respect to extracted data from previous similar studies. Presented results supported the clinical findings in the literature that the homozygous p.M694V and compound heterozygous genotype were associated with more severe courses in FMF patients. © 2015, Indian Academy of Sciences.

引用

页码：629 / 635

页数：6