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Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
The clinical effect of gene mutations in familial Mediterranean fever disease
Vildan Güngörer1, Alaaddin Yorulmaz2, Şükrü Arslan1
1Departments of Pediatric Rheumatology, Selcuk University Faculty of Medicine, Konya, Turkey.
Background:
Familial Mediterranean fever (FMF) is a self-limiting, autoinflammatory disease characterized by inflammation of the serosal surfaces and recurrent episodes of fever. The aim of this study is to determine the effect of genetic mutations on clinical features in children with FMF.
Methods:
A total of 303 patients aged 0-18 years, who were diagnosed with FMF, according to Yalcinkaya-Özen diagnostic criteria and whose Mediterranean fever gene (MEFV) analysis was studied, were evaluated retrospectively. The clinical and demographic characteristics of the patients and the relationship between common alleles and genotypes were investigated.
Results:
The most common mutation in patients was M694V heterozygous. When the patients were divided into four groups, M694V homozygous, M694V heterozygous, M694V/other allele combined heterozygous, and other mutations, Arthritis was statistically significantly higher in the group that was M694V homozygous compared to the other groups. It was observed that the presence of the M694V allele significantly increased the frequency of periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome. The frequency of arthritis was significantly higher in patients who were E148Q homozygous than in patients who were heterozygous. Appendectomy history was significantly higher in the group carrying the V726A allele.
Conclusions:
FMF disease and the effect of genetics on the disease can be better understood, thanks to studies evaluating the genotype-phenotype relationship. In this regard, we believe that studies evaluating the clinical and genotype relationship with a large series are needed.
Insights
Genetic mutations significantly influence Familial Mediterranean Fever (FMF) clinical features in children. M694V homozygous mutations are linked to higher arthritis rates, while other mutations affect fever and associated syndromes.
Area of Science:
- Genetics
- Pediatrics
- Rheumatology
Background:
- Familial Mediterranean Fever (FMF) is an autoinflammatory disorder causing recurrent fevers and serosal inflammation.
- Understanding the genetic basis of FMF is crucial for predicting disease course and severity.
Purpose of the Study:
- To investigate the impact of genetic mutations on clinical manifestations in pediatric FMF patients.
- To explore genotype-phenotype correlations within a cohort of children diagnosed with FMF.
Main Methods:
- Retrospective analysis of 303 pediatric patients (0-18 years) diagnosed with FMF.
- Evaluation of Mediterranean fever gene (MEFV) analysis, clinical data, and demographic characteristics.
- Investigation of relationships between common MEFV alleles, genotypes, and clinical phenotypes.
Main Results:
- M694V heterozygous was the most frequent mutation.
- M694V homozygous patients exhibited a significantly higher incidence of arthritis.
- M694V allele presence correlated with increased frequency of periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA).
- E148Q homozygous genotype was associated with higher arthritis rates compared to heterozygous.
- V726A allele carriers had a higher prevalence of appendectomy history.
Conclusions:
- Genotype-phenotype correlation studies are vital for a deeper understanding of FMF.
- Further research with large cohorts is needed to elucidate the complex relationship between FMF genetics and clinical presentation.
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