Common Mediterranean Fever Gene Mutations in the Azeri Turkish Population of Iran

Bonyadi, Mortaza; Esmaeili, Mohsen; Karimi, Abbas; Dastgiri, Saeed

doi:10.1089/gtmb.2009.0087

Cited by 19 publications

(17 citation statements)

References 24 publications

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“…Many studies have shown male preponderance in FMF [ 38 , 40 , 41 ]. In Sackesen et al [ 52 ] and Dunder et al [ 37 ] the average age of onset was second decade of life.…”

Section: Discussionmentioning

confidence: 99%

“…In Dundar's [ 37 ] report 49.6% of patients had no MEFV mutations, 26.41% were heterozygous, 15.29% were compound, and 8.60% were homozygous mutation. In Balci et al [ 55 ], Esmaeili et al [ 41 ], and Bonyadi et al [ 40 ] case series results have been shown in Table 4 . Comparison of this study with different ethnic groups has been presented in Table 5 .…”

Section: Discussionmentioning

confidence: 99%

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Familial Mediterranean Fever in Iran: A Report from FMF Registration Center

Salehzadeh

2015

International Journal of Rheumatology

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Background. Familial Mediterranean fever (FMF) is a periodic AR autoinflammatory disorder. This comprehensive study describes FMF in Iran as a country near Mediterranean area. Materials and Methods. From the country FMF registration center 403 patients according to Tel-Hashomer criteria enrolled this study, 239 patients had MEFV gene mutations analyses. Data, if needed, was analyzed by SPSS v20. Results. 175 patients (43.4%) were female and 228 patients (56.6%) were male. The mean age was 21.3 years. Abdominal pain was in 93.3% patients and 88.1% had fever. Abdominal pain was the main complaint of patients in (49.6%). The mean interval between attacks was 36.5 ± 29.6 days and the mean duration of every episodes was 43.3 ± 34.5 hours. 15.1% of patients had positive family history and 12.7% had previous surgery; in 52.3% of patients delay in diagnosis was more than three years. 12 common MEFV gene mutations were analyzed, 21.33% were without mutations, 39.7% had compound heterozygote, 25.52% showed heterozygous, and 13.38% showed homozygous results. The most common compound genotype was M694V-V726A (% 10.46) and in alleles M694V (% 20.9) and V726A (% 12.7) were the most frequent mutations, respectively. Conclusion. M694V was the most common mutation, and the most common compound genotype was M694V-V726A. Our genotype results are similar to Arabs and in some way to Armenians, erysipelas-like skin lesions are not common in this area, and clinical criteria are the preferred methods in diagnosis of FMF.

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“…Many studies have shown male preponderance in FMF [ 38 , 40 , 41 ]. In Sackesen et al [ 52 ] and Dunder et al [ 37 ] the average age of onset was second decade of life.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Familial Mediterranean Fever in Iran: A Report from FMF Registration Center

Salehzadeh

2015

International Journal of Rheumatology

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“…Defects effecting the inflammasome FMF Mutations in MEFV 486 [120,122,[175][176][177][178][179] Hyper-IgD syndrome Mutations in MVK 1 [180] Non-inflammasome-related conditions Blau syndrome Mutations in CARD15 3 diagnosed by identifying mutated genes. …”

Section: Definite Diagnosis Of Diseases Of Immune Dysregulationmentioning

confidence: 99%

Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example

Latif

Tabassomi

Abolhassani

et al. 2014

Expert Review of Clinical Immunology

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Primary immunodeficiency diseases (PID) comprise a heterogeneous group of inherited diseases with a wide spectrum of clinical manifestations and laboratory abnormalities. Definite diagnosis of a PID is performed most reliably by detection of a gene mutation which will allow genetic counseling. In addition, detection and confirmation of PIDs that were not severe enough during childhood to lead to a specific diagnosis would be possible. As a definite diagnosis of PID is of importance for the management of these disorders, we present a review on studies that have investigated mutations among patients with different types of PID in Iran. Although the frequency of a definite molecular diagnosis of PID in Iran is acceptable in a developing country, we believe that providing additional laboratory resources and diagnostic methods, development of specialized centers for PID, in addition to improvement of physicians' awareness, may facilitate clinical and genetic diagnosis of patients with PID in Iran.

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“…Genotyping revealed that the carrier rate in the Azeri Turkish population was 25.5%. 21 However, there is few information about MEFV mutations in children in our area. This study was carried out to work on varieties of MEFV gene mutations in HSP children and evaluate the association between these mutations with clinical characteristics.…”

Section: E148qmentioning

confidence: 99%

Prevalence of the MEFV gene mutations and their clinical correlations in Azeri Turkish patients with childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations

Rafeey¹,

M²,

Aliyari³

et al. 2015

J Anal Res Clin Med

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Henoch-Shonlein purpura (HSP) is the most common systemic vasculitis of small vessels in childhood leading to involvement of the skin, gastrointestinal (GI) tract, joints, and kidneys. 1 The incidence of this disease is 12.9-15.0 per 100000 children. 2 Its peak incidence is between 2-8 years of age and is more common in males than females. 3 Clinical signs include nonthrombocytopenic purpura with mass distribution in lower extremities and buttocks, arthritis, especially in large joints, GI symptoms, and renal involvement. 3,4 The cause is unknown, but infectious agents, medications, food allergies and insect bites have been implicated in its occurrence. 5

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Common Mediterranean Fever Gene Mutations in the Azeri Turkish Population of Iran

Cited by 19 publications

References 24 publications

Familial Mediterranean Fever in Iran: A Report from FMF Registration Center

Familial Mediterranean Fever in Iran: A Report from FMF Registration Center

Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example

Prevalence of the MEFV gene mutations and their clinical correlations in Azeri Turkish patients with childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations

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