ArticleAnnals of Saudi medicine
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.
Article in Annals of Saudi medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Familial Mediterranean fever in Azerbaijani children: a nationwide cohort study of genotype-phenotype association.Rheumatology (Oxford, England) · 2026Article
- Spectrum of MEFV variants in 8,252 patients from Eastern and Southeastern Anatolia: a large single-center cohort study (2019-2026).Pediatric rheumatology online journal · 2026Review
- Familial Mediterranean fever in Romania: a case report and literature review.Frontiers in pediatrics · 2024Review
- An Update on Familial Mediterranean Fever.International journal of molecular sciences · 2023Review
- Contribution of Arab Countries to Familial Mediterranean Fever Research: a PubMed-based bibliometric analysis.Rheumatology international · 2022Observational
- Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.Pediatric rheumatology online journal · 2015Article
- Periodic Fever: a review on clinical, management and guideline for Iranian patients - part I.Iranian journal of pediatrics · 2014Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesFamilial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs. The aim of this study was to determine the frequency and spectrum of 12 MEFV mutations of these patients and any genotype-phenotype correlation in this large Turkish group. DESIGN AND
settingA retrospective study at Erciyes University Medical Faculty, from January 2007 to June 2009. PATIENTS AND
methodsWe enrolled 446 Turkish FMF patients and identified the known 12 MEFV mutations with clinical investigations. DNA was amplified by PCR and subjected to reverse hybridization for the detection of MEFV gene mutations.
resultsAmong the 446 patients, 103 (46.6%) had a heterozygous genotype, 44 (19.9%) had a homozygous genotype, and 74 (33.49%) had a compound heterozygous genotype. The most common mutation detected was heterozygote M694V (46/221). Of the included 446 patients, 218 (48.87%) were male and 228 (51.12%) were female. High parental consanguinity rates affect FMF development. The clinical spectrum varied with different mutation profiles.
conclusionsThis study plays an important role in detecting the distribution of MEFV mutations and determining clinical approaches among Turk FMF patients. Also, we seemed to detect a distinctive clinical picture, specifically a lower frequency of amyloidosis.
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