Common MEFV Mutation Analysis in Iranian Azeri Turkish Patients with Familial Mediterranean Fever

• Published in: Seminars in arthritis and rheumatism Vol. 37; no. 5; pp. 334 - 338
• Main Authors: Esmaeili, Mohsen, MSc, Bonyadi, Mortaza, PhD, Rafeey, Mandana, MD, Sakha, Kazem, MD, Somi, Mohammad Hossein, MD
• Format: Journal Article
• Language: English
• Published: Philadelphia, PA Elsevier Inc 01-04-2008; Elsevier
• Subjects: Adolescent; Adult; Aged; Biological and medical sciences; Child; Child, Preschool; common mutations; Cytoskeletal Proteins - genetics; Diseases of the osteoarticular system; DNA - genetics; DNA Mutational Analysis; Familial Mediterranean fever; Familial Mediterranean Fever - ethnology; Familial Mediterranean Fever - genetics; Female; Genetic Predisposition to Disease; Humans; Inflammatory joint diseases; Iran - epidemiology; Iranian Azeri Turks; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; MEFV; Middle Aged; Mutation; Pyrin; Rheumatology; Turkey - ethnology; common mutations; Familial Mediterranean fever; Iranian Azeri Turks; MEFV; Human; Diseases of the osteoarticular system; Familial mediterranean fever; Rheumatology; Hereditary periodic fever; Mutation; Genetic disease; Inflammatory disease
• ISSN: 0049-0172; 1532-866X
• DOI: 10.1016/j.semarthrit.2007.08.005

Objectives To identify the frequency and distribution of familial Mediterranean fever (FMF) gene ( MEFV ) mutations among Azeri Turkish patients from northwestern Iran. Methods One hundred ninety unrelated patients were referred by specialists to the Molecular-Medical Genetic Center of Tabriz. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV gene was performed for the 5 most commonly known mutations, namely M694V, V726A, M680I, M694I, and E148Q, by using amplification refractory mutation system for the first 4 and by polymerase chain reaction restriction-digestion testing for E148Q. These methods may also be used as a screening tool within affected families. Results Of the unrelated patients investigated, 120 (63%) had 1 or 2 mutations. Of those with mutations, 41 were homozygous, 37 were compound heterozygous, and 42 had only 1 identifiable mutation. Of the studied alleles, the most frequent mutation was M694V (28%), followed by V726A (9%), E148Q (7%), M680I (7%), and M694I (1%) mutations. Conclusions Our results indicate that the common Mediterranean mutations are frequent in the Azeri Turkish FMF patients but with some differences in the frequency of individual mutations. The high frequency of E148Q in Azeri Turks compared with Mediterranean ethnic groups is rather interesting. The results open the way for further investigations on patients diagnosed as having FMF and in whom no mutations or only 1 mutated allele were found.