ArticleClinical rheumatology2014
Clinical evaluation of R202Q alteration of MEFV genes in Turkish children.
Article in Clinical rheumatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 47 citations in OpenAlex.
- Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?Journal of clinical immunology · 2025Article
- Characterizing Protracted Febrile Myalgia: Fasciitis and Vasculitis of the Fascia and Muscle as Novel Histopathological Features.Journal of clinical medicine · 2024Article
- Mediterranean Fever (Journal of clinical practice and research · 2024Article
- R202Q prevalence in clinically diagnosed Familial Mediterranean Fever patients: 9 years of data analysis from 1570 patients living Central Black Sea region, Turkey.Irish journal of medical science · 2023Article
- Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.Rheumatology international · 2022Article
- Article
- Clinical significance of MEFV gene variation R202Q.Clinical rheumatology · 2022Article
- Prediction of More Severe MEFV Gene Mutations in Childhood.Turkish archives of pediatrics · 2021Article
- Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.Molecular biology reports · 2021Article
- Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever.Rheumatology international · 2021Observational
- A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.Molecular biology reports · 2020Article
- The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey.The Eurasian journal of medicine · 2019Article
- Familial Mediterranean Fever: Assessing the Overall Clinical Impact and Formulating Treatment Plans.Mediterranean journal of hematology and infectious diseases · 2019Review
- The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).Journal of clinical medicine · 2018Article
- A rare cause of fever in an adult: a case of familial Mediterranean fever.International medical case reports journal · 2018Article
- Increased Frequency ofBalkan journal of medical genetics : BJMG · 2017Article
- Severe liver involvement in two patients with long-term history of fever: remember familial Mediterranean fever.BMJ case reports · 2016Article
- Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.Journal of genetics · 2016Article
- Late-onset familial Mediterranean fever: A case series of missed diagnoses in pleural effusions.Sage open chronic diseaseArticle
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To date, over 200 alterations have been reported in Mediterranean fever (MEFV) genes, but it is not clear whether all these alterations are disease-causing mutations. This study aims to evaluate the clinical features of the children with R202Q alteration. The medical records of children with R202Q alteration were reviewed retrospectively. A total of 225 children, with 113 males, were included. Fifty-five patients were heterozygous, 30 patients were homozygous for R202Q, and 140 patients were compound heterozygous. Classical familial Mediterranean fever (FMF) phenotype was present in 113 patients: 2 heterozygous and 7 homozygous R202Q, 46 double homozygous R202Q and M694V, and 58 compound heterozygous. The main clinical characteristics of the patients were abdominal pain in 71.5 %, fever in 37.7 %, arthralgia/myalgia in 30.2 %, arthritis in 10.2 %, chest pain in 14.6 % and erysipelas-like erythema in 13.3 %. The frequency of abdominal pain was significantly lower in patients with homozygous R202Q alteration (p = 0.021), whereas patients with heterozygous R202Q mutations, though not statistically significant, had a higher frequency of arthralgia/myalgia (40.0 %, p = 0.05). R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some cases. This alteration may be associated with a mild phenotype and shows phenotypic differences other than the common MEFV mutations.
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