Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance

Bidari, Ali; Ghavidel‐Parsa, Banafsheh; Najmabadi, Hossein; Talachian, Elham; Haghighat-Shoar, Majid; Broumand, Behrooz; Ghalehbaghi, Babak

doi:10.3109/s10165-010-0317-3

Cited by 5 publications

(3 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There were a few patients in our study from the large Iranian community in western Sweden. This is in keeping with recent studies, indicating that FMF is more common in the northwest part of Iran than previously thought . In this part of the country the population is many times of Azeri Turkish origin and the area is located close to both the Mediterranean Sea and Armenia .…”

Section: Discussionsupporting

confidence: 91%

“…The median time from the first symptoms to a diagnosis of FMF was 4 years with a range of 1 year to 34 years in our study, which is similar to the diagnostic delay reported from Turkey and shorter then the diagnostic delay reported from Iran . The time to diagnosis was reduced in our study, as in other studies, by the fact that several of the patients were siblings.…”

Section: Discussionsupporting

confidence: 85%

See 1 more Smart Citation

Familial mediterranean fever – an increasingly important childhood disease in Sweden

et al. 2012

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 85%

Familial mediterranean fever – an increasingly important childhood disease in Sweden

et al. 2012

View full text Add to dashboard Cite

show abstract

“…Following the exclusion of 428 articles due to duplication and irrelevant to our subject, 16 articles published between 2004 and 2020, involving 4,256 Iranian FMF patients, were included in this systematic review. Nine studies were performed on patients from different regions [8][9][10][11][12][13][14][15][16], six studies were performed on Azeri Turkish patients living in the northwest [17][18][19][20][21][22], and one study was performed in the southwest of Iran [23] (Table 1). The ratio of male to female varied from 0.57 to 1.68.…”

Section: Resultsmentioning

confidence: 99%

Spectrum of MEFV gene mutations in 4,256 familial Mediterranean fever patients from Iran: a comprehensive systematic review

Alibakhshi

Ghadiri

Khamooshian

et al. 2022

Egypt J Med Hum Genet

View full text Add to dashboard Cite

Background Familial Mediterranean fever (FMF), known as a disease with a high prevalence rate among Armenian, Turkish, Jewish, and Arab descent populations, occurs as a result of pathogenic variants in mediterranean fever (MEFV) gene. The aim of this study was to review the spectrum and frequency of MEFV gene mutations reported among Iranian FMF patients. Methods After performing a systematic review of the literature and implementation of inclusion and exclusion criteria, 16 articles published between 2004 and 2020, involving 4,256 Iranian FMF patients, were included. Results A total of 38 different MEFV gene mutations were identified. The most common mutations among Iranian FMF patients were: p.M694V (c.2080A > G) (20.27%), p.E148Q (c.442G > C) (10.27%), p.V726A (c.2177T > C) (8.24%), p.M680I (both c.2040G > C and c.2040G > A) (7.20%), p.R761H (c.2282G > A) (2.1%), and p.M694I (c.2082G > A) (2. 1%). The frequencies of these mutations were significantly different in different parts of the country. Conclusions The ranks and frequencies of p.M694V, p.E148Q, p.V726A, p.M680I, and p.M694I in our population were closer to those observed in the Mediterranean countries, especially in the Middle Eastern Arab populations. Although some comprehensive studies have been performed on Azeri Turkish patients living in northwestern Iran, studies in other areas, especially in eastern Iran, have been very limited. One reason for this observation could be due to the low frequency of FMF patients in those areas. Regardless of the reason for this, the exact spectrum and frequency of MEFV gene mutations in Iranian FMF patients remain unclear. Therefore, comprehensive future studies in different parts of the country are recommended.

show abstract

Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations

Beheshtian

Izadi²,

Kriegshäuser

et al. 2016

J Genet

View full text Add to dashboard Cite

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Armenian, Turkish, Jewish and Middle East Arab populations. To identify the frequency and the spectrum of common MEFV mutations in different Iranian populations, we investigated a cohort of 208 unselected asymptomatic individuals and 743 FMF patients. Nine hundred and fifty-one samples were analysed for the presence of 12 MEFV mutations by PCR and reverse-hybridization (FMF StripAssay, ViennaLab, Vienna, Austria). Confirmatory dideoxy sequencing of all MEFV gene exons was performed for 39 patients. Fifty-seven (27.4%) healthy individual carried mutant MEFV alleles. Three hundred and ninety-one (52.6%) FMF patients were found positive for either one (172/743; 23.1%), two or three MEFV mutations. Using dideoxy sequencing, three novel variants, A66P, R202W and H300Q, could be identified. Our analysis revealed an allele frequency and carrier rate of 15.6 and 27.4%, respectively, among healthy Iranians. Still moderate compared to neighbouring Armenia, but higher than in Turkey or Iraq, these data suggest that FMF is remarkably common among Iranian populations. E148Q was most frequent in the group of healthy individuals, whereas M694V was the most common mutation among FMF patients, thereby corroborating previous studies on MEFV mutational spectra in the Middle East. Accordingly, MEFV mutations are frequent in healthy Iranian individuals across different ethnic groups. Based on this finding, the awareness for FMF and the implementation of augmented carrier screening programmes considering the multiethnic nature of the Iranian population should be promoted.

show abstract

Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance

Cited by 5 publications

References 22 publications

Familial mediterranean fever – an increasingly important childhood disease in Sweden

Familial mediterranean fever – an increasingly important childhood disease in Sweden

Spectrum of MEFV gene mutations in 4,256 familial Mediterranean fever patients from Iran: a comprehensive systematic review

Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations

Contact Info

Product

Resources

About