Background And Objectives: Familial 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 Setting: A retrospective study at Erciyes University Medical Faculty, from January 2007 to June 2009.
Patients And Methods: We 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.
Results: Among 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.
Conclusions: This 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081005 | PMC |
| http://dx.doi.org/10.5144/0256-4947.2012.343 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Characterizing Protracted Febrile Myalgia: Fasciitis and Vasculitis of the Fascia and Muscle as Novel Histopathological Features.
J Clin Med
December 2024
Department of Internal Medicine, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.
: Protracted febrile myalgia (PFM) is a rare but severe form of myalgia mainly occurring in pediatric patients with familial Mediterranean fever (FMF). PFM imaging and histopathological data remain scarce. : A comprehensive clinical, imaging, and histopathological characterization of PFM was performed by retrospectively analyzing a reference center cohort of adult patients with FMF and myalgia, and by a PubMed search of well-described cases with PFM.
View Article and Find Full Text PDFPreliminary Evaluation for the Development of a Scoring System to Predict Homozygous M694V Genotype in Familial Mediterranean Fever Patients: A Single-Center Study.
J Clin Rheumatol
January 2025
From the Department of Pediatric Rheumatology, Ümraniye Training and Research Hospital, University of Health Sciences, İstanbul, Turkey.
Objective: The aim of this study was to identify key parameters of a scoring system to be developed to predict the homozygous M694V genotype in patients clinically diagnosed with familial Mediterranean fever.
Methods: This study was a cross-sectional analysis of 472 pediatric familial Mediterranean fever patients with a homozygous genotype on exon 10, followed at our tertiary pediatric rheumatology clinic between June 2016 and June 2023. The patients were categorized into 2 groups based on their genotypes: group 1 comprised 402 patients (85.
The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever.
Postgrad Med
January 2025
Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital, Bilkent, Ankara, Turkey.
Objective: To compare the demographic and clinical characteristics of familial Mediterranean fever (FMF) patients according to age at disease onset and evaluate the dose effect of the number of pathogenic or likely pathogenic exon 10 mutations of the MEFV gene on disease severity.
Methods: This medical record review study was performed on 485 pediatric FMF patients with uni- or biallelic exon 10 mutations of the MEFV gene (M694V, M694I, M680I, V726A, R761H, T267I). Patients were grouped according to age at disease onset (Group 1:<6 years; Group 2:6-11 years; and Group 3:>11 years).
Association of Inflammasome Gene Expression Levels with Pathogenesis of Familial Mediterranean Fever in Armenians.
Int J Mol Sci
December 2024
Institute of Biomedicine and Pharmacy, Russian-Armenian University, Yerevan 0051, Armenia.
Familial Mediterranean fever (FMF) is a genetically determined autoinflammatory disease transmitted mostly by an autosomal recessive mechanism and caused by point mutations of the (Mediterranean FeVer) gene. The aim of this study was to evaluate the expression of inflammasome genes (, , , and ) in patients with FMF compared to controls to understand the changes playing a key role in disease development. We found altered expression levels of the full-length isoform as well as and in FMF patients versus controls.
View Article and Find Full Text PDFGenewise detection of variants in gene using nanopore sequencing.
Front Genet
November 2024
Laboratory of Human Genetics, Institute of Molecular Biology NAS RA, Yerevan, Armenia.
Familial Mediterranean Fever (FMF) is a genetic disorder with complex inheritance patterns and genotype-phenotype associations, and it is highly prevalent in Armenia. FMF typically follows an autosomal recessive inheritance pattern (OMIM: 249100), though it can occasionally display a rare dominant inheritance pattern with variable penetrance (OMIM։134610). The disease is caused by mutations in the gene, which encodes the pyrin protein.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!