Abstract
Background/aim The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study.Materials and methods Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q.ResultsThere were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). ConclusionIn this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.
Highlights
The aim of our study was to investigate the distribution of the common Mediterranean fever (MEFV) mutations in Turkish Familial Mediterranean fever (FMF) patients in a nationwide, multicenter study
The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q
Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12,
Summary
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease with self-limiting attacks. FMF is caused by the mutations in the MEFV (Mediterranean fever) gene and inherited in an autosomal recessive manner. More than 300 sequence variations have been identified in the MEFV gene, mostly due to single nucleotide substitutions [5]. Five founder mutations, located on exon 10 (M694V, V726A, M694I, and M680I) and exon 2 (E148Q), account for nearly 80% of patients with typical cases from these ethnic groups [1]. A previous study of 1090 Turkish FMF patients reported in 2005 showed that M694V was the most frequently observed mutation, followed by M680I and V726A [3]
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