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.
Similar Articles
Similar Articles
- Faruk İNCECİK, Özlem M. HERGÜNER, Mustafa YILMAZ, Şakir ALTUNBAŞAK, Pseudotumor Cerebri in a Child With Familial Mediterranean Fever , Archives of Rheumatology: Vol. 30 No. 3 (2015): The Archives of Rheumatology
- Orhan KÜÇÜKŞAHİN, Şükran ERTEN, Emre KÜLAHÇIOĞLU, Alexis K OKOH, Murat TURGAY, Timur TUNCALI, Gülay KINIKLI, Ali ŞAHİN, Zeynep ŞEKER, Aşkın ATEŞ, Lack of the Association of the PTPN22 C1858T Gene Polymorphism With Susceptibility to Familial Mediterranean Fever , Archives of Rheumatology: Vol. 31 No. 2 (2016): The Archives of Rheumatology
- Rabia Miray Kışla Ekinci, Özlem Anlaş, Özge Özalp, Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome , Archives of Rheumatology: Vol. 38 No. 2 (2023): The Archives of Rheumatology
- Maşallah BARAN, Yeliz ÇAĞAN APPAK, Pınar GARİPCİN, Yavuz DEMİRÇELİK, Emel Ebru PALA, Berk ÖZYILMAZ, Miray KARAKOYUN, Orkan ERGÜN, The Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula , Archives of Rheumatology: Vol. 33 No. 4 (2018): The Archives of Rheumatology
- Yeliz Z Akkaya-Ulum, Basak Sen, Tayfun Hilmi Akbaba, Banu Balci-Peynircioglu, Modulation of Inflammasome Activity by miR-197-3p in Familial Mediterranean Fever Mouse Macrophages , Archives of Rheumatology: Vol. 41 No. 2 (2026): Archives of Rheumatology
- Deniz Dülgeroğlu, Canan Aybay, Eylem D. G. Kırbıyık, Ayşegül Barlak, Sumru Özel, A Case with Seronegative Spondyloarthropathy: Ankylosing Spondylitis or Familial Mediterranean Fever? , Archives of Rheumatology: Vol. 21 No. 2 (2006): The Archives of Rheumatology
- Ezgi Balkarlı, Süleyman Nuri Bayram, Hasan Ağın, Timur Meşe, Hurşit Apa, Miray Yılmaz Çelebi, Şahika Şahinkaya, Elif Böncüoğlu, Elif Kıymet, İlker Devrim, The evaluation of the burden of multisystem inflammatory syndrome in children on health economics , Archives of Rheumatology: Vol. 39 No. 1 (2024): The Archives of Rheumatology
- Ceyhun Açarı, Elif Çomak, Şükrü Çekiç, Serkan Türkuçar, Hatice Adıgüzel Dündar, Sara Şebnem Kılıç, Sema Akman, Balahan Makay, Şevket Erbil Ünsal, Clinical features of children with chronic non-bacterial osteomyelitis: A multicenter retrospective case series from Turkey , Archives of Rheumatology: Vol. 36 No. 3 (2021): The Archives of Rheumatology
- Rabia Miray KIŞLA EKİNCİ, Sibel BALCI, Derya UFUK ALTINTAŞ, Mustafa YILMAZ, The Influence of Concomitant Disorders on Disease Severity of Familial Mediterranean Fever in Children , Archives of Rheumatology: Vol. 33 No. 3 (2018): The Archives of Rheumatology
- Şenay Özdolap, Selda Sarıkaya, Erol Aktunç, FAMILIAL MEDITERRANEAN FEVER ASSOCIATED WITH ANKYLOSING SPONDYLITIS: A CASE REPORT , Archives of Rheumatology: Vol. 21 No. 1 (2006): The Archives of Rheumatology
<< < 1 2 3 4 5 6 7 8 9 10 > >>
You may also start an advanced similarity search for this article.
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
Outlines