Clinical significance of MEFV gene variation R202Q

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dc.contributor.authorKandur, Yasar
dc.contributor.authorKocakap, Derya Beyza Sayin
dc.contributor.authorAlpcan, Aysegul
dc.contributor.authorTursun, Serkan
dc.date.accessioned2025-01-21T16:36:36Z
dc.date.available2025-01-21T16:36:36Z
dc.date.issued2022
dc.departmentKırıkkale Üniversitesi
dc.description.abstractBackground The aim of this study was to evaluate the phenotypic features and the clinical significance of the R202Q mutation of the MEFV gene. Methods We retrospectively reviewed the medical records of Familial Mediterranean Fever patients with M694V/- and M694V/R202Q mutations. We compared the patients regarding disease severity, symptoms, age at the onset of symptoms, gender, consanguinity, and family history. Results Twenty-one patients (9 males, 12 females) had compound heterozygote mutation (M694V/R202Q), and 37 patients (23 males, 14 females) had M694V/- mutation. The mean age of the patients at the time of diagnosis was 7.3 +/- 4.3 and 9.2 +/- 3.7 years. The rate of arthritis was significantly higher in patients with M694V/R202Q heterozygote mutation than those with M694V/- heterozygote mutation (76.2% vs 32.4%; p= < 0.001). The mean severity score was higher in M694V/R202Q heterozygote group although it did not reach statistical significance (8.43 +/- 1.69 vs 7.49 +/- 1.50; p= 0.082). However, the rate of having a high severity score was significantly higher in the M694V/R202Q mutation group than in the other group (47.6% vs 21.6%, respectively; p= 0.039). The rate of arthritis was significantly higher in patients with M694V/R202Q heterozygote mutation than those with M694V/- heterozygote mutation (76.2% vs 32.4%; p= < 0.001). Conclusion Our finding supports the possibility that R202Q may be pathogenic rather than a variation. We found that the R202Q mutation is associated with the inflammatory phenotype of FMF; hence, the typical clinical findings of FMF especially arthritis can be observed in patients with compound mutation including R202Q.
dc.identifier.doi10.1007/s10067-021-05906-1
dc.identifier.endpage274
dc.identifier.issn0770-3198
dc.identifier.issn1434-9949
dc.identifier.issue1
dc.identifier.pmid34491459
dc.identifier.scopus2-s2.0-85114315051
dc.identifier.scopusqualityQ1
dc.identifier.startpage271
dc.identifier.urihttps://doi.org/10.1007/s10067-021-05906-1
dc.identifier.urihttps://hdl.handle.net/20.500.12587/24347
dc.identifier.volume41
dc.identifier.wosWOS:000693498100002
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer London Ltd
dc.relation.ispartofClinical Rheumatology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_20241229
dc.subjectFamilial Mediterranean Fever; R202Q; Arthritis; Pediatric
dc.titleClinical significance of MEFV gene variation R202Q
dc.typeArticle

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