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High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey
Ünal Uluca1, Aydın Ece2, Velat Şen1
1Departamento de Pediatría, Facultad de Medicina, Universidad de Dicle.
Objective:
The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey.
Methods:
A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine. Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations. Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity.
Results:
A family history of FMF was found in 60.2% (n=305) of patients. The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n=380) were heterozygous, 14.2% were homozygous (n=72) and 10.8% were compound heterozygous (n=55).The following MEFV gene mutation alleles were identified: E148Q (40.1%), M694V (25.9%), V726A (15.8%), R761H (7.4%), M680I (6.8%), and P369S (4.1%). The M694V subgroup had the lowest mean age of disease onset and the highest mean disease severity score, whereas the E148Q group had later mean disease onset and the lowest mean disease severity score (p<0.05).
Conclusion:
The highest E148Q mutation frequency and milder disease in the course of FMF in our study population may be due to geographic and ethnic background dissimilarities of southeast Turkey.
Insights
This study identified the spectrum of Mediterranean fever (MEFV) gene mutations in 507 children in southeast Turkey. The M694V mutation correlated with earlier onset and higher severity, while E148Q showed later onset and milder disease.
Area of Science:
- Genetics
- Pediatrics
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder.
- MEFV gene mutations are the underlying cause of FMF.
- Understanding mutation spectrum and genotype-phenotype correlations is crucial for patient management.
Purpose of the Study:
- To investigate the spectrum of MEFV gene mutations in children with FMF in southeast Turkey.
- To analyze genotype-phenotype correlations in this pediatric population.
- To identify specific mutation patterns and their association with disease characteristics.
Main Methods:
- Retrospective analysis of 507 children diagnosed with FMF.
- Evaluation of clinical parameters including age at onset, diagnosis, symptoms, and colchicine response.
- MEFV gene mutation analysis using real-time PCR for common mutations.
Main Results:
- The most frequent MEFV mutations were E148Q (40.1%), M694V (25.9%), and V726A (15.8%).
- The M694V subgroup exhibited the earliest disease onset and highest severity scores.
- The E148Q subgroup presented with later onset and milder disease phenotypes.
Conclusions:
- The high frequency of E148Q mutations and associated milder disease in southeast Turkey may be linked to regional geographic and ethnic factors.
- Genotype-phenotype correlations in FMF are influenced by population-specific genetic backgrounds.
- This study highlights regional variations in MEFV mutation prevalence and clinical presentation.
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