MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diag...
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| Format: | Article |
| Language: | English |
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Shiraz University of Medical Sciences
2015-01-01
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| Series: | Iranian Journal of Medical Sciences |
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| Online Access: | http://ijms.sums.ac.ir/index.php/IJMS/article/view/1393 |
| _version_ | 1818230539344150528 |
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| author | Farhad Salehzadeh Mehdi Jafari Asl Saeid Hosseini Asl Sepideh Jahangiri Shahram Habibzadeh |
| author_facet | Farhad Salehzadeh Mehdi Jafari Asl Saeid Hosseini Asl Sepideh Jahangiri Shahram Habibzadeh |
| author_sort | Farhad Salehzadeh |
| collection | DOAJ |
| description | Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, previously diagnosed by Tel-Hashomer clinical criteria, in northwest of Iran, located in the proximity of the Mediterranean Sea. In the northwest of Iran (Ardabil), 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q. All patients were screened for MEFV gene mutations by a reverse hybridization assay (FMF Strip Assay, Vienna lab, Vienna, Austria) according to manufacturer’s instructions. Among these FMF patients, no mutation was detected in 51 (23/62%) patients, but 165 (76/38%) patients had one or two mutations, 33 patients (15/28%) homozygous, 86 patients (39/81%) compound heterozygous and 46 patients (21/29%) were heterozygous. The most common mutations were M694V (23/61%), V726A (11/11%) and E148Q (9/95%) respectively.
MEFV gene mutations showed similarities and dissimilarities in different ethnic groups, while it is common among Arabs and Armenians genotype. Since common 12 MEFV gene analysis could not detect up to 50% of our patients, who had FMF on the basis of clinical Tel-Hashomer criteria, clinical criteria is still the best way in the diagnosis of FMF in this area. |
| first_indexed | 2024-12-12T10:36:06Z |
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| institution | Directory Open Access Journal |
| issn | 0253-0716 1735-3688 |
| language | English |
| last_indexed | 2024-12-12T10:36:06Z |
| publishDate | 2015-01-01 |
| publisher | Shiraz University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Medical Sciences |
| spelling | doaj.art-794027942107441485e76fef5df97f252022-12-22T00:27:13ZengShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-07161735-36882015-01-014016872MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean FeverFarhad Salehzadeh0Mehdi Jafari Asl1Saeid Hosseini Asl2Sepideh Jahangiri3Shahram Habibzadeh4Departments of Pediatrics, Bouali Hospital, Ardabil University of Medical Sciences, Ardabil, Iran;Departments of Pediatrics, Bouali Hospital, Ardabil University of Medical Sciences, Ardabil, Iran;Molecular-Genetic Laboratory, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, Iran;Departments of Pediatrics, Bouali Hospital, Ardabil University of Medical Sciences, Ardabil, Iran;Department of Infectious Diseases, Bouali Hospital, Ardabil University of Medical Sciences, Ardabil, IranFamilial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, previously diagnosed by Tel-Hashomer clinical criteria, in northwest of Iran, located in the proximity of the Mediterranean Sea. In the northwest of Iran (Ardabil), 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q. All patients were screened for MEFV gene mutations by a reverse hybridization assay (FMF Strip Assay, Vienna lab, Vienna, Austria) according to manufacturer’s instructions. Among these FMF patients, no mutation was detected in 51 (23/62%) patients, but 165 (76/38%) patients had one or two mutations, 33 patients (15/28%) homozygous, 86 patients (39/81%) compound heterozygous and 46 patients (21/29%) were heterozygous. The most common mutations were M694V (23/61%), V726A (11/11%) and E148Q (9/95%) respectively. MEFV gene mutations showed similarities and dissimilarities in different ethnic groups, while it is common among Arabs and Armenians genotype. Since common 12 MEFV gene analysis could not detect up to 50% of our patients, who had FMF on the basis of clinical Tel-Hashomer criteria, clinical criteria is still the best way in the diagnosis of FMF in this area.http://ijms.sums.ac.ir/index.php/IJMS/article/view/1393Familial Mediterranean FeverMEFV geneIranTel-Hashomer criteria |
| spellingShingle | Farhad Salehzadeh Mehdi Jafari Asl Saeid Hosseini Asl Sepideh Jahangiri Shahram Habibzadeh MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever Iranian Journal of Medical Sciences Familial Mediterranean Fever MEFV gene Iran Tel-Hashomer criteria |
| title | MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever |
| title_full | MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever |
| title_fullStr | MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever |
| title_full_unstemmed | MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever |
| title_short | MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever |
| title_sort | mefv gene profile in northwest of iran twelve common mefv gene mutations analysis in 216 patients with familial mediterranean fever |
| topic | Familial Mediterranean Fever MEFV gene Iran Tel-Hashomer criteria |
| url | http://ijms.sums.ac.ir/index.php/IJMS/article/view/1393 |
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