Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations

• Published in: Gene 2015-09, Vol.568 (2), p.170-175
• Main Authors: Dogan, Hasan, Faruk Bayrak, Omer, Emet, Mucahit, Keles, Mustafa, Gulluoglu, Sukru, Gul, Zeynep, Pirim, Ibrahim
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Child; Child, Preschool; Cytoskeletal Proteins - genetics; DNA Mutational Analysis; DNA sequencing; Familial Mediterranean Fever - genetics; Female; FMF; Gene Frequency; Genetic Association Studies; Humans; Infant; Male; MEFV; Middle Aged; Mutation, Missense; Pyrin; Rare mutation; Turkey; Young Adult
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2015.05.045

We aimed to determine the frequency of mutations, carrier rates and the association of rare mutations with Familial Mediterranean Fever (FMF) symptoms. There is a need to evaluate as many different populations as possible in order to determine either specific rare mutations or a range of disease-associated mutations. The demographic data and FMF symptoms related to MEFV gene mutations were collected from 731 participants. Exon 2 and exon 10 of the MEFV gene were tested by DNA sequencing. The rare mutations were identified as: M694I (1.1%, n=12), E148V (0.6%, n=6), T267I (0.5%, n=5), L110P (0.2%, n=2), E167D (0.2%, n=2), K695R (0.1%, n=1) and an insertion G (Guanine) mutation (0.4%, n=4) at the 777th codon of exon 10. We used routine comprehensive detection systems such as Sanger sequence that can catch rare mutations, for definite diagnosis and treatment of FMF disease. •We determine the prevalence of rare mutations of the MEFV gene in Northeastern Anatolia.•The rare mutations were M694I, E148V, T267I, L110P, E167D, K695R and a new mutation.•Rare mutations for FMF may not be as rare as they were previously thought to be.