Published In
Archives of Rheumatology
Volume: 30 Issue: 1, March 2015
Pages: 051-056
History
Published Online: March 31, 2015
This work is licensed under a Creative Commons Attribution 4.0 International License.
Tufan ÇANKAYA
Department of Pediatric Genetics, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
Elçin BORA
Department of Pediatric Genetics, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
Meral TORUN BAYRAM
Department of Pediatric Nephrology, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
Ayfer ÜLGENALP
Department of Pediatric Genetics, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
Salih KAVUKÇU
Department of Pediatric Nephrology, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
Mehmet Atilla TÜRKMEN
Department of Pediatric Nephrology, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
Alper SOYLU
Department of Pediatric Nephrology, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
Tufan ÇANKAYA, Elçin BORA, Meral TORUN BAYRAM, Ayfer ÜLGENALP, Salih KAVUKÇU, Mehmet Atilla TÜRKMEN, & Alper SOYLU. (2015). Clinical Significance of R202Q Alteration of MEFV Gene in Children With Familial Mediterranean Fever. Archives of Rheumatology, 30(1), 051–056. https://doi.org/10.5606/ArchRheumatol.2015.4455
Abstract
Objectives: This study aims to investigate the clinical impact of the R202Q (c.605G>A) alteration of Mediterranean fever (MEFV) gene in children with familial Mediterranean fever (FMF).
Patients and methods: Medical records of 115 patients (51 males, 64 females; mean age 6.6±3.8 years; range 8 months to 15.8 years) presenting with FMF pre-diagnosis were examined. Patients were classified into two groups based on number of mutated alleles (one-mutant allele and two mutant alleles), and these groups were classified into three subgroups (Group 1; subgroup 1: M694V/R202Q, subgroup 2: M694V/other, subgroup 3: other/other, and Group 2; subgroup 4: R202Q/-, subgroup 5: other/-, subgroup 6: -/-). Sex, age, abdominal pain, fever, arthritis or arthralgia, myalgia, erysipelas-like erythema, chest pain, amyloidosis, family history of FMF, and definitive FMF frequency were compared between groups.
Results: The most common allele alterations were the heterozygous R202Q alteration (27%) and the compound heterozygous mutation M694V/ R202Q (20.9%). The R202Q alteration of MEFV gene was detected in 76 patients (66%) (15 homozygous). There was non-M694V (E148Q, V726A) mutation in two of these patients. One (50%) of the patients with isolated R202Q homozygous alteration and six (19%) of the patients with isolated R202Q heterozygous alteration had definitive FMF. In the two-mutant allele group; abdominal pain, fever, arthritis/arthralgia, and definitive FMF frequency were lower in subgroup 1 than subgroup 2. There was no significant difference in clinical findings and definitive FMF frequency between subgroup 2 and subgroup 3. In the one-mutant allele group, clinical findings did not differ between subgroups.
Conclusion: R202Q alteration of the MEFV gene may lead to symptoms consistent with FMF. However, R202Q/M694V compound heterozygosity is more associated with mild phenotype than compound heterozygous mutation of M694V.
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Article Info
Published In
Journal
Archives of Rheumatology
Volume / Issue
Vol. 30 No. 1 (2015): The Archives of Rheumatology
Pages
051-056
History
Published Online
March 31, 2015
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Affiliations
1
Tufan ÇANKAYA
Department of Pediatric Genetics, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
2
Elçin BORA
Department of Pediatric Genetics, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
3
Meral TORUN BAYRAM
Department of Pediatric Nephrology, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
4
Ayfer ÜLGENALP
Department of Pediatric Genetics, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
5
Salih KAVUKÇU
Department of Pediatric Nephrology, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
6
Mehmet Atilla TÜRKMEN
Department of Pediatric Nephrology, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
7
Alper SOYLU
Department of Pediatric Nephrology, Medical Faculty of Dokuz Eylül University, İzmir, Turkey
Cite this Article
Tufan ÇANKAYA, Elçin BORA, Meral TORUN BAYRAM, Ayfer ÜLGENALP, Salih KAVUKÇU, Mehmet Atilla TÜRKMEN, & Alper SOYLU. (2015). Clinical Significance of R202Q Alteration of MEFV Gene in Children With Familial Mediterranean Fever. Archives of Rheumatology, 30(1), 051–056. https://doi.org/10.5606/ArchRheumatol.2015.4455
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