The Spectrum of Familial Mediterranean Fever Gene (Mefv) Mutations and Genotypes in Iran, and Report of a Novel Missense Variant (R204h) Publisher Pubmed



Ebadi N¹ ; Shakoori A¹ ; Razipour M¹ ; Salmaninejad A² ; Zarifian Yeganeh R¹ ; Mehrabi S¹ ; Raeeskarami SR³ ; Khaleghian M¹ ; Azhideh H⁴ Show Affiliations
Source: European Journal of Medical Genetics Published:2017

Abstract

Background Familial Mediterranean Fever (FMF) is an autosomal recessive disorder, characterized by recurrent and self-limited episodes of fever, abdominal pain, synovitis and pleuritis. FMF as the most common inherited monogenic autoinflammatory disease mainly affects ethnic groups of the Mediterranean basin, Arab, Jewish, Turkish, Armenian North Africans and Arabic descent. Materials and methods In the present study, we selected 390 unrelated FMF patients according to the Tel-Hashomer criteria, and analyzed all patients for 12 most common mutations of MEFV gene by reverse hybridization assay (FMF strip assay). We also investigated exon 2 and 10 of MEFV gene in 78 patients by Sanger sequencing. Results According to strip assay results, at least one mutation was found in 234 patients (60%), and no mutation was found in other 156 patients (40%). The five most common mutations and allelic frequencies were M694V (13.6%), E148Q (10.4%), M694I (6.5%), V726A (4.1%), and M680I (3.8%). Moreover, we detected a novel missense variant (R204H, c.611 G > A) (SCV000297822) and following rare mutations among sequenced samples; R202Q, P115T, G304R, and E230K. Conclusion This study describes the MEFV mutations spectrum and distribution in Iranian population, and shows different mutation patterns among Iranian ethnicities. Moreover, M694V is the most common MEFV mutation in Iran. © 2017 Elsevier Masson SAS