MEFV Variants in Patients with PFAPA Syndrome in Japan
Shoichiro Taniuchi1, Ryuta Nishikomori, Anna Iharada
1Department of Pediatrics, Kansai Medical University, Japan.
Background:
The pathogenesis of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome is unknown as yet. In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), and Hyper IgD syndrome were analyzed in children with PFAPA.
Patients And Methods:
All variants in MEFV, TNFRSF1A, and MVK were analyzed in 20 patients with PFAPA. PFAPA were diagnosed by previous published criteria. The findings of all analyses in PFAPA patients were compared with those of unaffected normal subjects (n=62).
Results:
In the 13 children of 20 with PFAPA, the heterozygous variants of MEFV (5 patients: E148Q-L110P, 2 patients: E148Q, 1 patient: E148Q-L110P/E148Q, 1 patient: E148Q-P369S-R408Q-E84K, 1 patient: E148Q-L110P-P369S-A408G, 1 patient: R202Q, 1 patient: P115R) were found. No variants belonging to TNFRSF1A or MVK were detected in children with PFAPA. The frequency of the E148Q-L110P variants in children with PFAPA was significantly higher than that observed in unaffected normal subjects (7/20 versus 8/62). The duration of the episodes of illness in PFAPA children with MEFV variants was shorter than that of patients without variants.
Conclusion:
Genes involved in the development and progression of MEFV may affect the incidence and the phenotype of PFAPA in children.
Insights
Genetic variants in MEFV, associated with familial Mediterranean fever, were found in children with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome. These MEFV variants may influence PFAPA incidence and illness duration.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Auto-inflammatory Diseases
- Immunology
Background:
- Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome pathogenesis remains unclear.
- Investigating genetic links to other auto-inflammatory conditions is crucial for understanding PFAPA.
- Genes responsible for familial Mediterranean fever (FMF), TRAPS, and Hyper IgD syndrome were examined.
Purpose of the Study:
- To determine if genetic variants in FMF, TRAPS, or Hyper IgD genes are associated with PFAPA.
- To explore the potential role of these genes in PFAPA pathogenesis.
- To compare genetic findings in PFAPA patients with healthy controls.
Main Methods:
- Genetic analysis of MEFV, TNFRSF1A, and MVK genes in 20 PFAPA patients.
- Diagnosis of PFAPA based on established criteria.
- Comparison of variant frequencies between PFAPA patients and 62 healthy individuals.
Main Results:
- Heterozygous MEFV variants were identified in 13 out of 20 PFAPA patients.
- The E148Q-L110P MEFV variant combination was significantly more frequent in PFAPA patients than controls.
- No TNFRSF1A or MVK variants were found in PFAPA patients.
- PFAPA episodes were shorter in patients with MEFV variants.
Conclusions:
- MEFV gene variants may influence the occurrence and clinical presentation of PFAPA in children.
- The findings suggest a potential genetic overlap between FMF and PFAPA.
- Further research is warranted to elucidate the precise mechanisms involved.
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